Allele Registry

Canonical Allele Identifier: PA2827771894

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79459

ClinVar RCV:

RCV000059442

ClinVar Variation:

68567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340880.1:p.Gly1751Glu	CA285012 NM_001353951.2:c.5252G>A