{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA116311",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NP_000263.2:p.Gly343Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116310",
          "hgvs": "NM_000272.5:c.1027G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA348090535",
          "hgvs": "NM_000272.5:c.1027G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146819"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18549[alleleid]",
        "alleleId": 18549,
        "preferredName": "NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3510",
        "RCV": [
          "RCV000003685",
          "RCV000520742",
          "RCV000537800",
          "RCV000778560",
          "RCV003466797",
          "RCV004018547"
        ],
        "variationId": 3510
      }
    ]
  },
  "type": "amino-acid"
}