Allele Registry

Canonical Allele Identifier: PA2826004319

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV001848605

ClinVar Variation:

1344509

HGVS (amino-acid)	Matching Registered Transcripts
NP_001158255.1:p.Tyr437His	CA406015686 NM_001164783.2:c.1309T>C