Allele Registry

Canonical Allele Identifier: PA2827754387

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000188988

ClinVar Variation:

206854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Arg1648Leu	CA317561 NM_001353948.2:c.4943G>T