Allele Registry

Canonical Allele Identifier: PA658659483

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000531208

RCV001707725

ClinVar Variation:

461291

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Asp597Asn	CA5248634 NM_003165.6:c.1789G>A