{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA355216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 800,
          "referenceAllele": "M",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NP_000288.1:p.Met800Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA348383",
          "hgvs": "NM_000297.4:c.2398A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA357626649",
          "hgvs": "NM_000297.4:c.2398A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146843"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=221479[alleleid]",
        "alleleId": 221479,
        "preferredName": "NM_000297.4(PKD2):c.2398A>C (p.Met800Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/219985",
        "RCV": [
          "RCV000204140",
          "RCV000253113",
          "RCV001000584",
          "RCV001258257",
          "RCV001292230",
          "RCV001705172"
        ],
        "variationId": 219985
      }
    ]
  },
  "type": "amino-acid"
}