Allele Registry

Canonical Allele Identifier: PA2827784073

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000189019

RCV002517890

ClinVar Variation:

206880

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ser1890Phe	CA317662 NM_001353957.2:c.5669C>T