Allele Registry

Canonical Allele Identifier: PA2827783753

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188993

ClinVar Variation:

206859

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Thr1693Lys	CA317581 NM_001353957.2:c.5078C>A