{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA223563",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 852,
          "referenceAllele": "R",
          "start": 851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013436",
      "geneNCBI_id": 57096,
      "geneSymbol": "RPGRIP1",
      "hgvs": [
        "NP_065099.3:p.Arg852Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA223562",
          "hgvs": "NM_020366.4:c.2555G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176873"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=101844[alleleid]",
        "alleleId": 101844,
        "preferredName": "NM_020366.4(RPGRIP1):c.2555G>A (p.Arg852Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/95948",
        "RCV": [
          "RCV000082000",
          "RCV001111274",
          "RCV001111273",
          "RCV001002311",
          "RCV001513784"
        ],
        "variationId": 95948
      }
    ]
  },
  "type": "amino-acid"
}