Allele Registry

Canonical Allele Identifier: PA2827770057

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000489157

RCV000636267

ClinVar Variation:

426565

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Arg535Cys	CA1943286 NM_001353951.2:c.1603C>T