Allele Registry

Canonical Allele Identifier: PA2828502290

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000494083

RCV000791831

RCV001290393

ClinVar Variation:

429757

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Gly508Val	CA374939370 NM_001374315.2:c.1523G>T