Canonical Allele Identifier: PA2827754739
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68565
ClinVar RCV Id: RCV000059440 RCV000188987
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340877.1:p.Cys1716Arg
CA285006
NM_001353948.2:c.5146T>C