{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916071952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 692,
          "referenceAllele": "R",
          "start": 691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NP_620596.2:p.Arg692Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117769",
          "hgvs": "NM_139027.6:c.2074C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181474"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20848[alleleid]",
        "alleleId": 20848,
        "preferredName": "NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5809",
        "RCV": [
          "RCV000006165",
          "RCV002512822"
        ],
        "variationId": 5809
      }
    ]
  },
  "type": "amino-acid"
}