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
ENSP00000269980.2:p.Gln53His
CA9461012
ENST00000269980.7:c.159G>C
CA406004638
ENST00000269980.7:c.159G>T