Allele Registry

Canonical Allele Identifier: PA2827786890

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001045336

ClinVar Variation:

842847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340887.1:p.Phe1787Leu	CA349067524 NM_001353958.2:c.5361T>G CA349067526 NM_001353958.2:c.5361T>A CA349067536 NM_001353958.2:c.5359T>C