Allele Registry

Canonical Allele Identifier: PA2826258048

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059401

RCV000364532

RCV000986918

ClinVar Variation:

68529

280476

HGVS (amino-acid)	Matching Registered Transcripts
NP_001189364.1:p.Arg118Ser	CA284922 NM_001202435.3:c.354G>C CA10602815 NM_001202435.3:c.354G>T