Allele Registry

Canonical Allele Identifier: PA2828500285

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000489440

ClinVar Variation:

427203

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361241.1:p.Ile218Asn	CA374933817 NM_001374312.2:c.653T>A