Allele Registry

Canonical Allele Identifier: PA2827764604

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000413156

RCV003588626

RCV003992286

ClinVar Variation:

372741

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Glu777Lys	CA16042443 NM_001353950.2:c.2329G>A