HGVS Genomic Variation Annotation

Preferred Label : HGVS Genomic Variation Annotation;

NCIt related terms : genomic hgvs; genomic_hgvs;

NCIt definition : The designation of an observed genomic variation based on the Human Genome Variation Society (HGVS) nomenclature guidelines.;

NCI Metathesaurus CUI : CL1406112;

Details

Origin ID

C172243;

UMLS CUI

C5419535;

Semantic type(s)
- Intellectual Product [UMLS semantic type]
concept_is_in_subset
- CTDC Property Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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