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.Lys166Asn
CA364657732
ENST00000320393.9:c.498G>C
CA364657733
ENST00000320393.9:c.498G>T