{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830271986",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 444,
          "referenceAllele": "P",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NP_620595.1:p.Pro444Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117779",
          "hgvs": "NM_139026.6:c.1330C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181473"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20853[alleleid]",
        "alleleId": 20853,
        "preferredName": "NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5814",
        "RCV": [
          "RCV000006170",
          "RCV000251648",
          "RCV000767050"
        ],
        "variationId": 5814
      }
    ]
  },
  "type": "amino-acid"
}