Allele Registry

Canonical Allele Identifier: PA317647

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000488340

RCV000692247

RCV001136462

RCV001136463

RCV002345677

RCV003128398

ClinVar Variation:

206875

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Gly1869Glu	CA317645 NM_006920.6:c.5606G>A