Allele Registry

Canonical Allele Identifier: PA266128

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79552

ClinVar RCV:

RCV000059540

RCV000489760

RCV000764284

RCV000792317

ClinVar Variation:

68660

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Glu1784Lys	CA266126 NM_006920.6:c.5350G>A