Allele Registry

Canonical Allele Identifier: PA2827750216

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000992877

ClinVar Variation:

805380

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Cys345Tyr	CA349071462 NM_001353948.2:c.1034G>A