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
ENSP00000440345.1:p.Ser46Ter
CA9461009
ENST00000542943.5:c.137C>A
CA406004592
ENST00000542943.5:c.137C>G