Allele Registry

Canonical Allele Identifier: PA916036897

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79449

ClinVar RCV:

RCV000059431

RCV000176634

RCV000463147

RCV000623263

RCV002281560

RCV003448258

ClinVar Variation:

68557

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Arg822Gln	CA145253 NM_001353961.2:c.2465G>A