Allele Registry

Canonical Allele Identifier: PA2827790293

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059481

RCV000118240

RCV000189085

RCV000636276

ClinVar Variation:

68604

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Arg132Cys	CA269785 NM_001353961.2:c.394C>T