Allele Registry

Canonical Allele Identifier: PA2828474177

Gene: SCN2A HGNC NCBI

ClinVar RCV:

RCV000364025

ClinVar Variation:

193734

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358176.1:p.Thr393Lys	CA239346 NM_001371247.1:c.1178C>A