{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828480964",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 490,
          "referenceAllele": "R",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007905",
      "geneNCBI_id": 4867,
      "geneSymbol": "NPHP1",
      "hgvs": [
        "NP_001361186.1:p.Arg490Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1827002",
          "hgvs": "NM_001374257.1:c.1469G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706308"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=281578[alleleid]",
        "alleleId": 281578,
        "preferredName": "NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/330730",
        "RCV": [
          "RCV000261599",
          "RCV000319080",
          "RCV000591051",
          "RCV000385395",
          "RCV001549752",
          "RCV004544605",
          "RCV001094595"
        ],
        "variationId": 330730
      }
    ]
  },
  "type": "amino-acid"
}