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
NP_898871.1:p.Phe132Leu
CA364660461
NM_183050.3:c.394T>C
CA364660466
NM_183050.3:c.396T>A
CA364660467
NM_183050.3:c.396T>G