Allele Registry

Canonical Allele Identifier: PA317693

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189029

RCV001206735

RCV003137765

ClinVar Variation:

206887

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ile1993Val	CA317690 NM_001165963.4:c.5977A>G