Allele Registry

Canonical Allele Identifier: PA2828497520

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000485374

RCV001851183

ClinVar Variation:

420158

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361236.1:p.Ala283Thr	CA16618741 NM_001374307.2:c.847G>A