Allele Registry

Canonical Allele Identifier: PA2827790740

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000488340

RCV000692247

RCV001136462

RCV001136463

RCV002345677

RCV003128398

ClinVar Variation:

206875

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Gly1066Glu	CA317645 NM_001353961.2:c.3197G>A