Allele Registry

Canonical Allele Identifier: PA303317

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180874

RCV002515208

ClinVar Variation:

189922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Ser1666Phe	CA303314 NM_001165963.4:c.4997C>T