Canonical Allele Identifier: PA915988939
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93367
ClinVar RCV Id: RCV000179335 RCV000790736 RCV001831820
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Ala220Val
CA221207
NM_001164783.2:c.659C>T