Allele Registry

Canonical Allele Identifier: PA2829676141

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000587898

RCV000764285

RCV001262414

RCV001337164

RCV002317333

ClinVar Variation:

496120

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Val1527Ile	CA1942758 NM_006920.6:c.4579G>A