{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826051960",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "R",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NP_001161433.1:p.Arg184Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129977",
          "hgvs": "NM_001167961.2:c.550C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155500"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45589[alleleid]",
        "alleleId": 45589,
        "preferredName": "NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36926",
        "RCV": [
          "RCV000030608",
          "RCV000519234",
          "RCV000548914",
          "RCV001582502",
          "RCV002513270"
        ],
        "variationId": 36926
      }
    ]
  },
  "type": "amino-acid"
}