Allele Registry

Canonical Allele Identifier: PA2827753224

Gene: SCN1A HGNC NCBI

ClinVar Allele:

27924

ClinVar RCV:

RCV000013745

RCV000059409

RCV003992150

ClinVar Variation:

12885

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340877.1:p.Val1353Leu	CA256593 NM_001353948.2:c.4057G>C