Allele Registry

Canonical Allele Identifier: PA2827784940

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000486171

RCV003766659

RCV003989533

ClinVar Variation:

418475

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Arg500Trp	CA1943296 NM_001353958.2:c.1498C>T