Allele Registry

Canonical Allele Identifier: PA2826011039

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV003754165

ClinVar Variation:

2813384

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ile1782Val	CA349068080 NM_001165963.4:c.5344A>G