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
NP_000047.1:p.Lys388Asn	CA365021627 NM_000056.5:c.1164A>C CA365021628 NM_000056.5:c.1164A>T