Allele Registry

Canonical Allele Identifier: PA2828498148

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000415156

ClinVar Variation:

374223

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361237.1:p.Thr347Ile	CA16043619 NM_001374308.2:c.1040C>T