Allele Registry

Canonical Allele Identifier: PA2826260129

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000587898

RCV000764285

RCV001262414

RCV001337164

RCV002317333

ClinVar Variation:

496120

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Val1538Ile	CA1942758 NM_001202435.3:c.4612G>A