Allele Registry

Canonical Allele Identifier: PA2827762314

Gene: SCN1A HGNC NCBI

ClinVar RCV:

RCV000059458

RCV000585038

RCV001453714

RCV002415520

ClinVar Variation:

68582

HGVS (amino-acid)	Matching Registered Transcripts
NP_001340879.1:p.Arg27Thr	CA266095 NM_001353950.2:c.80G>C