Allele Registry

Canonical Allele Identifier: PA2827786558

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059432

RCV000188986

RCV000763457

RCV001198988

RCV001208285

RCV002316217

ClinVar Variation:

68558

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Arg1617Gln	CA284991 NM_001353958.2:c.4850G>A