Allele Registry

Canonical Allele Identifier: PA2828500928

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000114939

RCV000440506

RCV000525775

ClinVar Variation:

127076

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Glu283Lys	CA151362 NM_001374313.2:c.847G>A