{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645454110",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1016,
          "referenceAllele": "P",
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      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NP_000080.2:p.Pro1016His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4347649",
          "hgvs": "NM_000089.4:c.3047C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265335[alleleid]",
        "alleleId": 265335,
        "preferredName": "NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281098",
        "RCV": [
          "RCV000723559",
          "RCV000764736",
          "RCV001162767",
          "RCV001162768",
          "RCV002229738",
          "RCV002278258",
          "RCV002446511"
        ],
        "variationId": 281098
      }
    ]
  },
  "type": "amino-acid"
}