{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916074085",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 287,
          "referenceAllele": "N",
          "start": 286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NP_997064.2:p.Asn287Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1827267",
          "hgvs": "NM_207181.4:c.860A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185924"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=282229[alleleid]",
        "alleleId": 282229,
        "preferredName": "NM_001128178.3(NPHP1):c.771+89A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/330735",
        "RCV": [
          "RCV000290000",
          "RCV000325159",
          "RCV000381986",
          "RCV000732923",
          "RCV001094596",
          "RCV002487460"
        ],
        "variationId": 330735
      }
    ]
  },
  "type": "amino-acid"
}