Allele Registry

Canonical Allele Identifier: PA916037022

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000658882

ClinVar Variation:

546874

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Trp998Cys	CA349067580 NM_001353961.2:c.2994G>T CA349067582 NM_001353961.2:c.2994G>C