Allele Registry

Canonical Allele Identifier: PA2827762808

Gene: SCN1A HGNC NCBI

ClinVar Allele:

79550

ClinVar RCV:

RCV000059538

RCV001246264

ClinVar Variation:

68658

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Gly177Glu	CA285231 NM_001353950.2:c.530G>A