Allele Registry

Canonical Allele Identifier: PA2573063643

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV001848605

ClinVar Variation:

1344509

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Tyr438His	CA406015686 NM_000709.4:c.1312T>C