Allele Registry

Canonical Allele Identifier: PA2827758586

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059396

RCV000429753

ClinVar Variation:

68524

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Gly939Glu	CA284913 NM_001353949.2:c.2816G>A