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
ENSP00000318351.5:p.Gln57His
CA364658403
ENST00000320393.9:c.171G>C
CA364658404
ENST00000320393.9:c.171G>T