{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830272263",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 1029,
          "referenceAllele": "R",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NP_620595.1:p.Arg1029Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220022",
          "hgvs": "NM_139026.6:c.3085C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181473"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79706[alleleid]",
        "alleleId": 79706,
        "preferredName": "NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68815",
        "RCV": [
          "RCV000059767",
          "RCV000779576",
          "RCV002469002",
          "RCV003952487"
        ],
        "variationId": 68815
      }
    ]
  },
  "type": "amino-acid"
}