Allele Registry

Canonical Allele Identifier: PA2826004196

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000179780

RCV001283857

ClinVar Variation:

93377

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Asp301Ala	CA221224 NM_001164783.2:c.902A>C