Allele Registry

Canonical Allele Identifier: PA239347

Gene: SCN2A HGNC NCBI

ClinVar RCV:

RCV000364025

ClinVar Variation:

193734

HGVS (amino-acid)	Matching Registered Transcripts
NP_001035232.1:p.Thr393Lys	CA239346 NM_001040142.2:c.1178C>A