Allele Registry

Canonical Allele Identifier: PA2827784939

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000734751

RCV001408607

ClinVar Variation:

206768

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Arg500Gln	CA317237 NM_001353958.2:c.1499G>A