Allele Registry

Canonical Allele Identifier: PA285450

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000079577

RCV000701047

RCV002345392

RCV003155068

ClinVar Variation:

93645

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Phe1248Ser	CA285448 NM_006920.6:c.3743T>C