{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573063478",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2063,
          "referenceAllele": "P",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012726",
      "geneNCBI_id": 7450,
      "geneSymbol": "VWF",
      "hgvs": [
        "NP_000543.3:p.Pro2063Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA202650",
          "hgvs": "NM_000552.5:c.6187C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734749"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106313[alleleid]",
        "alleleId": 106313,
        "preferredName": "NM_000552.5(VWF):c.6187C>T (p.Pro2063Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100436",
        "RCV": [
          "RCV000086848",
          "RCV000177861",
          "RCV000400661",
          "RCV002243747",
          "RCV002243749",
          "RCV002243748"
        ],
        "variationId": 100436
      }
    ]
  },
  "type": "amino-acid"
}