Allele Registry

Canonical Allele Identifier: PA2828498385

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000531208

RCV001707725

ClinVar Variation:

461291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361237.1:p.Asp583Asn	CA5248634 NM_001374308.2:c.1747G>A