Allele Registry

Canonical Allele Identifier: PA2827787973

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000174047

RCV000636428

ClinVar Variation:

193841

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340889.1:p.Arg567Gln	CA239513 NM_001353960.2:c.1700G>A