Allele Registry

Canonical Allele Identifier: PA2827790263

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059475

RCV000188897

RCV000636409

RCV004542733

ClinVar Variation:

68598

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Arg117Cys	CA273369 NM_001353961.2:c.349C>T