Canonical Allele Identifier: PA658665168
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 457143

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Arg117Cys
CA9461092
NM_000709.4:c.349C>T