This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000348880.5:p.Gly172Arg
CA364657760
ENST00000356489.9:c.514G>A
CA364657761
ENST00000356489.9:c.514G>C