Allele Registry

Canonical Allele Identifier: PA2828501690

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV003027677

ClinVar Variation:

2117316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361243.1:p.Glu470Lys	CA374937819 NM_001374314.1:c.1408G>A