Allele Registry

Canonical Allele Identifier: PA2828500610

Gene: STXBP1 HGNC NCBI

ClinVar Variation Id: 1212923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Cys538Tyr	CA374939495 NM_001374312.2:c.1613G>A