{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499235927",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "referenceAllele": "W",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NP_001030025.1:p.Trp1141Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412726237",
          "hgvs": "NM_001034853.2:c.3423G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412726240",
          "hgvs": "NM_001034853.2:c.3423G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149674"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1000092[alleleid]",
        "alleleId": 1000092,
        "preferredName": "NM_001034853.2(RPGR):c.3423G>T (p.Trp1141Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3407661[alleleid]",
        "alleleId": 3407661,
        "preferredName": "NM_001034853.2(RPGR):c.3423G>C (p.Trp1141Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1012373",
        "RCV": [
          "RCV001310291"
        ],
        "variationId": 1012373
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3248856",
        "RCV": [
          "RCV004814121"
        ],
        "variationId": 3248856
      }
    ]
  },
  "type": "amino-acid"
}