Allele Registry

Canonical Allele Identifier: PA2827759477

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059406

RCV000188926

RCV000636387

RCV001836729

ClinVar Variation:

68533

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Arg1234Gln	CA284931 NM_001353949.2:c.3701G>A