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
ENSP00000358775.4:p.Arg48Ser
CA364658305
ENST00000369760.8:c.144G>C
CA364658306
ENST00000369760.8:c.144G>T