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.Cys234Ser
CA406012757
ENST00000595085.5:c.700T>A
CA406012761
ENST00000595085.5:c.701G>C