Allele Registry

Canonical Allele Identifier: PA2828500952

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV000485374

RCV001851183

ClinVar Variation:

420158

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Ala297Thr	CA16618741 NM_001374313.2:c.889G>A