Allele Registry

Canonical Allele Identifier: PA285179

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059514

RCV000517134

RCV001296129

ClinVar Variation:

68635

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Leu1503Ser	CA285177 NM_006920.6:c.4508T>C