Allele Registry

Canonical Allele Identifier: PA2826259220

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059395

RCV000378734

RCV000543457

RCV001004709

RCV001264404

RCV002433566

ClinVar Variation:

68523

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Arg946His	CA284910 NM_001202435.3:c.2837G>A