Allele Registry

Canonical Allele Identifier: PA2828500162

Gene: STXBP1 HGNC NCBI

ClinVar Allele:

202284

ClinVar RCV:

RCV000189584

RCV000698059

RCV001088539

RCV002317654

RCV004553036

ClinVar Variation:

207404

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Val70Ile	CA318830 NM_001374312.2:c.208G>A