{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110711",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 114,
          "referenceAllele": "I",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NP_000445.1:p.Ile114Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA275244",
          "hgvs": "NM_000454.5:c.341T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=194306[alleleid]",
        "alleleId": 194306,
        "preferredName": "NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197145",
        "RCV": [
          "RCV000178103",
          "RCV000255754",
          "RCV000492500",
          "RCV003398894"
        ],
        "variationId": 197145
      }
    ]
  },
  "type": "amino-acid"
}