{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA180241",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "A",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007907",
      "geneNCBI_id": 27031,
      "geneSymbol": "NPHP3",
      "hgvs": [
        "NP_694972.3:p.Ala1184Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA180240",
          "hgvs": "NM_153240.5:c.3550G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182815"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177218[alleleid]",
        "alleleId": 177218,
        "preferredName": "NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167378",
        "RCV": [
          "RCV000153592",
          "RCV000224286",
          "RCV000226496",
          "RCV000280342",
          "RCV000404782",
          "RCV001094788",
          "RCV003224174"
        ],
        "variationId": 167378
      }
    ]
  },
  "type": "amino-acid"
}