Canonical Allele Identifier: PA2827767089
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68635
ClinVar RCV Id: RCV000059514 RCV000517134 RCV001296129
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340879.1:p.Leu1503Ser
CA285177
NM_001353950.2:c.4508T>C