Allele Registry

Canonical Allele Identifier: PA2827761604

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79552

ClinVar RCV:

RCV000059540

RCV000489760

RCV000764284

RCV000792317

ClinVar Variation:

68660

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Glu1784Lys	CA266126 NM_001353949.2:c.5350G>A