Allele Registry

Canonical Allele Identifier: PA916036817

Gene: SCN1A HGNC NCBI

ClinVar Allele:

187742

ClinVar RCV:

RCV000180931

RCV002516539

ClinVar Variation:

189976

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Ser657Phe	CA303462 NM_001353961.2:c.1970C>T