Allele Registry

Canonical Allele Identifier: PA645401933

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000485374

RCV001851183

ClinVar Variation:

420158

HGVS (amino-acid)	Matching Registered Transcripts
NP_003156.1:p.Ala297Thr	CA16618741 NM_003165.6:c.889G>A