Canonical Allele Identifier: PA2827786474
Gene: SCN1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68553
ClinVar RCV Id: RCV000059427 RCV000188978 RCV000794558 RCV001031013 RCV001253159 RCV002265592
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001340887.1:p.Arg1568Cys
CA145250
NM_001353958.2:c.4702C>T