Allele Registry

Canonical Allele Identifier: PA2827766101

Gene: SCN1A HGNC NCBI

ClinVar Allele:

99549

ClinVar RCV:

RCV000079577

RCV000701047

RCV002345392

RCV003155068

ClinVar Variation:

93645

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Phe1248Ser	CA285448 NM_001353950.2:c.3743T>C