Allele Registry

Canonical Allele Identifier: PA2827772237

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189029

RCV001206735

RCV003137765

ClinVar Variation:

206887

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Ile1982Val	CA317690 NM_001353951.2:c.5944A>G