{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830272827",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001366",
      "geneNCBI_id": 11093,
      "geneSymbol": "ADAMTS13",
      "hgvs": [
        "NP_620596.2:p.Cys1157Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117766",
          "hgvs": "NM_139027.6:c.3470G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181474"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20847[alleleid]",
        "alleleId": 20847,
        "preferredName": "NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5808",
        "RCV": [
          "RCV000006164"
        ],
        "variationId": 5808
      }
    ]
  },
  "type": "amino-acid"
}