Allele Registry

Canonical Allele Identifier: PA2828501113

Gene: STXBP1 HGNC NCBI

ClinVar RCV:

RCV003027677

ClinVar Variation:

2117316

HGVS (amino-acid)	Matching Registered Transcripts
NP_001361242.1:p.Glu470Lys	CA374937819 NM_001374313.2:c.1408G>A