ARCHETYPE Phenopacket HgvsAllele (openEHR-EHR-CLUSTER.pp_hgvsallele.v0)

ARCHETYPE IDopenEHR-EHR-CLUSTER.pp_hgvsallele.v0
ConceptPhenopacket HgvsAllele
Description*
UseWe recommend using a tool such as VariantValidator or Mutalyzer to validate the HGVS string. See the HGVS recommendations for details about the HGVS nomenclature.
PurposeThis 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
AuthorsAuthor name: Heather Leslie
Organisation: Atomica Informatics
Email: heather.leslie@atomicainformatics.com
Date originally authored: 2019-09-25
Other Details LanguageAuthor 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
Lifecyclein_development
UID4cf665de-e0c4-4261-82ec-e1a8382b6957
Language useden
Citeable Identifier1013.1.4144
Revision Number0.0.1-alpha
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