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
ENSP00000416000.2:p.Cys334Ser
CA406013717
ENST00000457836.6:c.1000T>A
CA406013721
ENST00000457836.6:c.1001G>C