{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139678841",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 727,
          "referenceAllele": "L",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NP_001009944.3:p.Leu727Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394389171",
          "hgvs": "NM_001009944.3:c.2180T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708163"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=982998[alleleid]",
        "alleleId": 982998,
        "preferredName": "NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/994718",
        "RCV": [
          "RCV001288339",
          "RCV003426027"
        ],
        "variationId": 994718
      }
    ]
  },
  "type": "amino-acid"
}