Allele Registry

Canonical Allele Identifier: PA107437

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059440

RCV000188987

ClinVar Variation:

68565

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Cys1716Arg	CA285006 NM_001165963.4:c.5146T>C