{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580108881",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1463,
          "referenceAllele": "R",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010591",
      "geneNCBI_id": 6329,
      "geneSymbol": "SCN4A",
      "hgvs": [
        "NP_000325.4:p.Arg1463Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8708977",
          "hgvs": "NM_000334.4:c.4387C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1986193[alleleid]",
        "alleleId": 1986193,
        "preferredName": "NM_000334.4(SCN4A):c.4387C>T (p.Arg1463Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1936362",
        "RCV": [
          "RCV002636380"
        ],
        "variationId": 1936362
      }
    ]
  },
  "type": "amino-acid"
}