Allele Registry

Canonical Allele Identifier: PA2827785356

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187804

ClinVar RCV:

RCV000180816

ClinVar Variation:

189863

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Leu835Trp	CA303139 NM_001353958.2:c.2504T>G