Allele Registry

Canonical Allele Identifier: PA2828501505

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000114939

RCV000440506

RCV000525775

ClinVar Variation:

127076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361243.1:p.Glu283Lys	CA151362 NM_001374314.1:c.847G>A