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
ENSP00000358775.4:p.Thr181Ser
CA3902647
ENST00000369760.8:c.542C>G
CA364657820
ENST00000369760.8:c.541A>T