Allele Registry

Canonical Allele Identifier: PA2828499172

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000489440

ClinVar Variation:

427203

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361239.1:p.Ile218Asn	CA374933817 NM_001374310.2:c.653T>A