Allele Registry

Canonical Allele Identifier: PA115519

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000179776

RCV002222336

ClinVar Variation:

2381

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Thr309Arg	CA115518 NM_001164783.2:c.926C>G