Allele Registry

Canonical Allele Identifier: PA110251

Gene: BCKDHA HGNC NCBI

ClinVar RCV:

RCV000180181

RCV000790743

ClinVar Variation:

93335

HGVS (amino-acid)	Matching Registered Transcripts
NP_000700.1:p.Arg346Cys	CA221176 NM_000709.4:c.1036C>T