Allele Registry

Canonical Allele Identifier: PA2828502027

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000489440

ClinVar Variation:

427203

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361244.1:p.Ile232Asn	CA374933817 NM_001374315.2:c.695T>A