Allele Registry

Canonical Allele Identifier: PA2827771810

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059440

RCV000188987

ClinVar Variation:

68565

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Cys1705Arg	CA285006 NM_001353951.2:c.5113T>C