Allele Registry

Canonical Allele Identifier: PA2828473122

Gene: SCN2A HGNC NCBI

ClinVar RCV:

RCV000478692

RCV000623855

RCV001265492

RCV003313080

RCV003485007

ClinVar Variation:

419634

521745

2687769

HGVS (amino-acid)	Matching Registered Transcripts
NP_001358175.1:p.Ser1758Arg	CA16617274 NM_001371246.1:c.5272A>C CA349038598 NM_001371246.1:c.5274T>A CA349038599 NM_001371246.1:c.5274T>G