Allele Registry

Canonical Allele Identifier: PA2826011112

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV001045336

ClinVar Variation:

842847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Phe1815Leu	CA349067524 NM_001165963.4:c.5445T>G CA349067526 NM_001165963.4:c.5445T>A CA349067536 NM_001165963.4:c.5443T>C