{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827320777",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 84,
          "referenceAllele": "R",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NP_001317467.1:p.Arg84Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8058159",
          "hgvs": "NM_001330538.2:c.251G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625312"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=343287[alleleid]",
        "alleleId": 343287,
        "preferredName": "NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/319668",
        "RCV": [
          "RCV000310412",
          "RCV000346684",
          "RCV000398312",
          "RCV000464407",
          "RCV000765298",
          "RCV001562186",
          "RCV001828321",
          "RCV004537804"
        ],
        "variationId": 319668
      }
    ]
  },
  "type": "amino-acid"
}