{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573063496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 2185,
          "referenceAllele": "R",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NP_000543.3:p.Arg2185Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA228748",
          "hgvs": "NM_000552.5:c.6554G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106320[alleleid]",
        "alleleId": 106320,
        "preferredName": "NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100443",
        "RCV": [
          "RCV000086855",
          "RCV000241790",
          "RCV000401548",
          "RCV002243753",
          "RCV002243751",
          "RCV002243752",
          "RCV002483170"
        ],
        "variationId": 100443
      }
    ]
  },
  "type": "amino-acid"
}