Allele Registry

Canonical Allele Identifier: PA2828501889

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

202284

ClinVar RCV:

RCV000189584

RCV000698059

RCV001088539

RCV002317654

RCV004553036

ClinVar Variation:

207404

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Val84Ile	CA318830 NM_001374315.2:c.250G>A