Allele Registry

Canonical Allele Identifier: PA2828497498

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000114939

RCV000440506

RCV000525775

ClinVar Variation:

127076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361236.1:p.Glu269Lys	CA151362 NM_001374307.2:c.805G>A