Allele Registry

Canonical Allele Identifier: PA2827771602

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79530

ClinVar RCV:

RCV000059517

RCV000735365

RCV002054913

RCV002336219

ClinVar Variation:

68638

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Val1601Ile	CA285183 NM_001353951.2:c.4801G>A