Allele Registry

Canonical Allele Identifier: PA2828497191

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000189623

RCV000415936

RCV001071757

RCV001265516

RCV001420235

RCV003126574

ClinVar Variation:

207440

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Arg548Cys	CA318892 NM_001374306.2:c.1642C>T