Allele Registry

Canonical Allele Identifier: PA115513

Gene: BCKDHA HGNC NCBI

ClinVar Allele:

17418

ClinVar RCV:

RCV000393620

RCV001379690

ClinVar Variation:

2379

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Arg265Trp	CA115512 NM_000709.4:c.793C>T