Allele Registry

Canonical Allele Identifier: PA221183

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000180522

RCV000790815

RCV000853374

RCV002514392

ClinVar Variation:

93344

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Val412Met	CA221182 NM_000709.4:c.1234G>A