Allele Registry

Canonical Allele Identifier: PA354919

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000209700

ClinVar Variation:

204377

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Asp282His	CA354918 NM_000709.4:c.844G>C