Allele Registry

Canonical Allele Identifier: PA354908

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000209016

ClinVar Variation:

204378

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Arg159Gln	CA354907 NM_000709.4:c.476G>A