Allele Registry

Canonical Allele Identifier: PA2827777870

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059442

ClinVar Variation:

68567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340883.1:p.Gly1750Glu	CA285012 NM_001353954.2:c.5249G>A