Allele Registry

Canonical Allele Identifier: PA2826013486

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180875

ClinVar Variation:

189923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159436.1:p.Ser1488Trp	CA303318 NM_001165964.3:c.4463C>G