{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828743185",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 200,
          "referenceAllele": "R",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NP_001365120.1:p.Arg200Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2496762",
          "hgvs": "NM_001378191.1:c.598C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736115"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2114824[alleleid]",
        "alleleId": 2114824,
        "preferredName": "NM_001395656.1(ROBO2):c.550C>T (p.Arg184Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2050479",
        "RCV": [
          "RCV002914534"
        ],
        "variationId": 2050479
      }
    ]
  },
  "type": "amino-acid"
}