ARCHETYPE ID | openEHR-EHR-CLUSTER.pp_hgvsallele.v0 |
Concept | Phenopacket HgvsAllele |
Description | * |
Use | We recommend using a tool such as VariantValidator or Mutalyzer to validate the HGVS string. See the HGVS recommendations for details about the HGVS nomenclature. |
Purpose | This element is used to describe an allele according to the nomenclature of the Human Geneome Variation Society (HGVS). For instance, NM_000226.3:c.470T>G indicates that a T at position 470 of the sequence represented by version 3 of NM_000226 (which is the mRNA of the human keratin 9 gene KRT9). |
References | |
Copyright | © openEHR Foundation |
Authors | Author name: Heather Leslie Organisation: Atomica Informatics Email: heather.leslie@atomicainformatics.com Date originally authored: 2019-09-25 |
Other Details Language | Author name: Heather Leslie Organisation: Atomica Informatics Email: heather.leslie@atomicainformatics.com Date originally authored: 2019-09-25 |
OtherDetails Language Independent | {licence=This work is licensed under the Creative Commons Attribution-ShareAlike 3.0 License. To view a copy of this license, visit http://creativecommons.org/licenses/by-sa/3.0/., custodian_organisation=openEHR Foundation, original_namespace=org.openehr, original_publisher=openEHR Foundation, custodian_namespace=org.openehr, MD5-CAM-1.0.1=2FFCB28B58400584C875186C26AC9BFA, build_uid=c37a55b0-d3ee-4101-bf51-6f8edae60f0e, revision=0.0.1-alpha} |
Keywords | |
Lifecycle | in_development |
UID | 4cf665de-e0c4-4261-82ec-e1a8382b6957 |
Language used | en |
Citeable Identifier | 1013.1.4144 |
Revision Number | 0.0.1-alpha |
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