Allele Registry

Canonical Allele Identifier: PA2826260316

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79451

ClinVar RCV:

RCV000059434

RCV001003955

RCV001229900

ClinVar Variation:

68559

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Arg1657His	CA145256 NM_001202435.3:c.4970G>A