Allele Registry

Canonical Allele Identifier: PA2825359428

Gene: SCN2A HGNC NCBI

ClinVar RCV:

RCV000189137

RCV000795173

RCV002288794

ClinVar Variation:

206988

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035233.1:p.Glu1162Val	CA317930 NM_001040143.2:c.3485A>T