Canonical Allele Identifier: PA658826249
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 556887
ClinVar RCV Id: RCV000672950

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg265Pro
CA308524327
NM_000709.4:c.794G>C