Allele Registry

Canonical Allele Identifier: PA2827790290

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059479

RCV000636356

ClinVar Variation:

68602

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Val130Ala	CA285093 NM_001353961.2:c.389T>C