{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827029988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2383,
          "referenceAllele": "R",
          "start": 2382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003052",
      "geneNCBI_id": 1832,
      "geneSymbol": "DSP",
      "hgvs": [
        "NP_001305963.1:p.Arg2383Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007610",
          "hgvs": "NM_001319034.2:c.7147C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648093"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197125[alleleid]",
        "alleleId": 197125,
        "preferredName": "NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/199911",
        "RCV": [
          "RCV000181351",
          "RCV002444729",
          "RCV002515308",
          "RCV002485192",
          "RCV003996664"
        ],
        "variationId": 199911
      }
    ]
  },
  "type": "amino-acid"
}