Allele Registry

Canonical Allele Identifier: PA2827764094

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000471353

RCV000515440

RCV000710209

RCV002408682

ClinVar Variation:

167646

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Arg580Gln	CA234868 NM_001353950.2:c.1739G>A