Allele Registry

Canonical Allele Identifier: PA2827753916

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059514

RCV000517134

RCV001296129

ClinVar Variation:

68635

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Leu1514Ser	CA285177 NM_001353948.2:c.4541T>C