Allele Registry

Canonical Allele Identifier: PA2827754481

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180874

RCV002515208

ClinVar Variation:

189922

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ser1666Phe	CA303314 NM_001353948.2:c.4997C>T