Allele Registry

Canonical Allele Identifier: PA2827755089

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059540

RCV000489760

RCV000764284

RCV000792317

ClinVar Variation:

68660

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Glu1795Lys	CA266126 NM_001353948.2:c.5383G>A