Allele Registry

Canonical Allele Identifier: PA2826004295

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000180522

RCV000790815

RCV000853374

RCV002514392

ClinVar Variation:

93344

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Val411Met	CA221182 NM_001164783.2:c.1231G>A