Allele Registry

Canonical Allele Identifier: PA2827756760

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000553399

ClinVar Variation:

461241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340878.1:p.Cys336Trp	CA349071602 NM_001353949.2:c.1008T>G