{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825109252",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 727,
          "referenceAllele": "L",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NP_000287.4:p.Leu727Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA276782871",
          "hgvs": "NM_000296.4:c.2180T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708170"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=553486[alleleid]",
        "alleleId": 553486,
        "preferredName": "NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562302",
        "RCV": [
          "RCV000681747",
          "RCV000761328",
          "RCV001095631",
          "RCV001254281",
          "RCV001292243"
        ],
        "variationId": 562302
      }
    ]
  },
  "type": "amino-acid"
}