{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828225509",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NP_001354176.1:p.Cys450Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239469",
          "hgvs": "NM_001367247.1:c.1348T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674566"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190971[alleleid]",
        "alleleId": 190971,
        "preferredName": "NM_001034853.2(RPGR):c.1348T>C (p.Cys450Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193808",
        "RCV": [
          "RCV000173995",
          "RCV001353107",
          "RCV001360742"
        ],
        "variationId": 193808
      }
    ]
  },
  "type": "amino-acid"
}