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.Met389Ile
CA365021634
ENST00000320393.9:c.1167G>A
CA365021635
ENST00000320393.9:c.1167G>C
CA365021636
ENST00000320393.9:c.1167G>T