Allele Registry

Canonical Allele Identifier: PA645437908

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000351654

RCV001859557

ClinVar Variation:

282250

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Arg189Cys	CA10604119 NM_000709.4:c.565C>T