Allele Registry

Canonical Allele Identifier: PA2826259624

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059406

RCV000188926

RCV000636387

RCV001836729

ClinVar Variation:

68533

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Arg1245Gln	CA284931 NM_001202435.3:c.3734G>A