Allele Registry

Canonical Allele Identifier: PA145258

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79451

ClinVar RCV:

RCV000059434

RCV001003955

RCV001229900

ClinVar Variation:

68559

HGVS (amino-acid)	Matching Registered Transcripts
NP_008851.3:p.Arg1646His	CA145256 NM_006920.6:c.4937G>A