Allele Registry

Canonical Allele Identifier: PA2827783320

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187742

ClinVar RCV:

RCV000180931

RCV002516539

ClinVar Variation:

189976

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340886.1:p.Ser1443Phe	CA303462 NM_001353957.2:c.4328C>T