{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916046268",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 183,
          "referenceAllele": "G",
          "start": 182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010295",
      "geneNCBI_id": 6103,
      "geneSymbol": "RPGR",
      "hgvs": [
        "NP_001354177.1:p.Gly183Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA120805",
          "hgvs": "NM_001367248.1:c.547G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674576"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24955[alleleid]",
        "alleleId": 24955,
        "preferredName": "NM_001034853.2(RPGR):c.517G>C (p.Gly173Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9916",
        "RCV": [
          "RCV003151715",
          "RCV003128227"
        ],
        "variationId": 9916
      }
    ]
  },
  "type": "amino-acid"
}