{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827239488",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 73,
          "referenceAllele": "C",
          "start": 72
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012592",
      "geneNCBI_id": 7390,
      "geneSymbol": "UROS",
      "hgvs": [
        "NP_001310965.1:p.Cys73Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340118",
          "hgvs": "NM_001324036.2:c.217T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS656273"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18789[alleleid]",
        "alleleId": 18789,
        "preferredName": "NM_000375.3(UROS):c.217T>C (p.Cys73Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3750",
        "RCV": [
          "RCV000003948",
          "RCV000726590"
        ],
        "variationId": 3750
      }
    ]
  },
  "type": "amino-acid"
}