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.Phe54Leu	CA3902509 ENST00000356489.9:c.160T>C CA364658370 ENST00000356489.9:c.162T>A CA364658371 ENST00000356489.9:c.162T>G