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: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000471150.2:p.Cys264Ser
CA406012957
ENST00000595085.5:c.790T>A
CA406012961
ENST00000595085.5:c.791G>C