Allele Registry

Canonical Allele Identifier: PA317692

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189029

RCV001206735

RCV003137765

ClinVar Variation:

206887

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Ile1982Val	CA317690 NM_006920.6:c.5944A>G