{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891850584",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
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          "end": 1453,
          "referenceAllele": "H",
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      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_003482.4:c.4359C>G"
        },
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          "@id": "http://reg.genome.network/allele/CA384646902",
          "hgvs": "NM_003482.4:c.4359C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=566858[alleleid]",
        "alleleId": 566858,
        "preferredName": "NM_003482.4(KMT2D):c.4359C>G (p.His1453Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=969850[alleleid]",
        "alleleId": 969850,
        "preferredName": "NM_003482.4(KMT2D):c.4359C>A (p.His1453Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/565471",
        "RCV": [
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        ],
        "variationId": 565471
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/981719",
        "RCV": [
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        ],
        "variationId": 981719
      }
    ]
  },
  "type": "amino-acid"
}