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: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000318351.5:p.Ser199Arg
CA364658025
ENST00000320393.9:c.595A>C
CA364658037
ENST00000320393.9:c.597T>A
CA364658039
ENST00000320393.9:c.597T>G