Allele Registry

Canonical Allele Identifier: PA221223

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000079259

RCV000664897

ClinVar Variation:

93376

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Arg297His	CA221222 NM_000709.4:c.890G>A