Allele Registry

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

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000348880.5:p.Asn391Lys	CA3902862 ENST00000356489.9:c.1173C>G CA365021648 ENST00000356489.9:c.1173C>A