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: BCKDHA HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
ENSP00000471150.2:p.Asn229Lys	CA406012734 ENST00000595085.5:c.687C>G CA406012735 ENST00000595085.5:c.687C>A