{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916046269",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 194,
          "referenceAllele": "Q",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NP_001354177.1:p.Gln194His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10385632",
          "hgvs": "NM_001367248.1:c.582G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412744667",
          "hgvs": "NM_001367248.1:c.582G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674576"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=257829[alleleid]",
        "alleleId": 257829,
        "preferredName": "NM_001034853.2(RPGR):c.552G>T (p.Gln184His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/255836",
        "RCV": [
          "RCV000251248",
          "RCV000459428",
          "RCV001618379",
          "RCV002503925"
        ],
        "variationId": 255836
      }
    ]
  },
  "type": "amino-acid"
}