Allele Registry

Canonical Allele Identifier: PA2827769108

Gene: SCN1A HGNC NCBI

ClinVar Allele:

405410

ClinVar RCV:

RCV000481610

RCV001262228

RCV001851250

ClinVar Variation:

423370

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Leu117Pro	CA16617318 NM_001353951.2:c.350T>C