Allele Registry

Canonical Allele Identifier: PA2827790642

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001045336

ClinVar Variation:

842847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340890.1:p.Phe1001Leu	CA349067524 NM_001353961.2:c.3003T>G CA349067526 NM_001353961.2:c.3003T>A CA349067536 NM_001353961.2:c.3001T>C