Allele Registry

Canonical Allele Identifier: PA2826004320

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000002473

RCV000055825

RCV000079229

RCV002514533

ClinVar Variation:

100009

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Tyr437Asn	CA115507 NM_001164783.2:c.1309T>A