Allele Registry

Canonical Allele Identifier: PA317564

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188988

ClinVar Variation:

206854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001159435.1:p.Arg1648Leu	CA317561 NM_001165963.4:c.4943G>T