Allele Registry

Canonical Allele Identifier: PA110319

Gene: BCKDHA HGNC NCBI

ClinVar Allele:

17414

ClinVar RCV:

RCV000002473

RCV000055825

RCV000079229

RCV002514533

ClinVar Variation:

100009

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Tyr438Asn	CA115507 NM_000709.4:c.1312T>A