Allele Registry

Canonical Allele Identifier: PA2828502300

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000189623

RCV000415936

RCV001071757

RCV001265516

RCV001420235

RCV003126574

ClinVar Variation:

207440

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Arg515Cys	CA318892 NM_001374315.2:c.1543C>T