Allele Registry

Canonical Allele Identifier: PA2828500526

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV003027677

ClinVar Variation:

2117316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Glu456Lys	CA374937819 NM_001374312.2:c.1366G>A