Allele Registry

Canonical Allele Identifier: PA107929

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059514

RCV000517134

RCV001296129

ClinVar Variation:

68635

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Leu1514Ser	CA285177 NM_001165963.4:c.4541T>C