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.Ser220Arg
CA406012812
ENST00000457836.6:c.658A>C
CA406012816
ENST00000457836.6:c.660T>A
CA406012817
ENST00000457836.6:c.660T>G