Preferred Label : HGVS Transcript Variation Annotation;
NCIt related terms : transcript_hgvs; transcript hgvs;
NCIt definition : The designation of an observed transcript variation based on the Human Genome Variation
Society (HGVS) nomenclature guidelines.;
NCI Metathesaurus CUI : CL1406111;
Origin ID : C172244;
UMLS CUI : C5419536;
Semantic type(s)
concept_is_in_subset