Allele Registry

Canonical Allele Identifier: PA2827781730

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000497813

RCV003588638

ClinVar Variation:

432714

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Gly343Ser	CA349071541 NM_001353957.2:c.1027G>A