Allele Registry

Canonical Allele Identifier: PA2827786249

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000493229

RCV002524036

ClinVar Variation:

429801

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Glu1427Lys	CA349049462 NM_001353958.2:c.4279G>A