Allele Registry

Canonical Allele Identifier: PA2827753931

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000180875

ClinVar Variation:

189923

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Ser1516Trp	CA303318 NM_001353948.2:c.4547C>G