{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA355827",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1255,
          "referenceAllele": "R",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NP_694972.3:p.Arg1255Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349679",
          "hgvs": "NM_153240.5:c.3763C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182815"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221365[alleleid]",
        "alleleId": 221365,
        "preferredName": "NM_153240.5(NPHP3):c.3763C>T (p.Arg1255Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219480",
        "RCV": [
          "RCV000205530",
          "RCV000261216",
          "RCV000323357",
          "RCV000732437",
          "RCV001094833",
          "RCV002500642",
          "RCV002517369"
        ],
        "variationId": 219480
      }
    ]
  },
  "type": "amino-acid"
}