Allele Registry

Canonical Allele Identifier: PA2827780263

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188945

RCV003753104

ClinVar Variation:

206822

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340884.1:p.Ala1417Thr	CA317442 NM_001353955.2:c.4249G>A