Canonical Allele Identifier: PA221214
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93371
ClinVar RCV Id: RCV000179338 RCV000819695
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ala254Asp
CA221213
NM_000709.4:c.761C>A