Allele Registry

Canonical Allele Identifier: PA645401879

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000489440

ClinVar Variation:

427203

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Ile232Asn	CA374933817 NM_003165.6:c.695T>A