Allele Registry

Canonical Allele Identifier: PA2828496930

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000114939

RCV000440506

RCV000525775

ClinVar Variation:

127076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361235.1:p.Glu280Lys	CA151362 NM_001374306.2:c.838G>A