{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139765504",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 84,
          "referenceAllele": "R",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021957",
      "geneNCBI_id": 154881,
      "geneSymbol": "KCTD7",
      "hgvs": [
        "NP_694578.1:p.Arg84Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4278210",
          "hgvs": "NM_153033.5:c.251G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182766"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=833811[alleleid]",
        "alleleId": 833811,
        "preferredName": "NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/848103",
        "RCV": [
          "RCV001051791"
        ],
        "variationId": 848103
      }
    ]
  },
  "type": "amino-acid"
}