Allele Registry

Canonical Allele Identifier: PA2827769886

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059376

RCV001036662

ClinVar Variation:

68504

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Arg393Ser	CA284865 NM_001353951.2:c.1177C>A