Allele Registry

Canonical Allele Identifier: PA2827754953

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79459

ClinVar RCV:

RCV000059442

ClinVar Variation:

68567

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Gly1762Glu	CA285012 NM_001353948.2:c.5285G>A