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      "coordinates": [
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          "endIntronDirection": "+",
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          "referenceAllele": "A",
          "start": 2779,
          "startIntronDirection": "+",
          "startIntronOffset": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001371407.1:c.2462+985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358336.1:n.2462+985A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692887"
    },
    {
      "coordinates": [
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          "endIntronDirection": "+",
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      ],
      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
        "NM_001371408.1:c.2462+985A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358337.1:n.2462+985A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139701696",
      "coordinates": [
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          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN009454",
      "geneNCBI_id": 8842,
      "geneSymbol": "PROM1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_006008.1:p.His847Arg",
        "hgvsWellDefined": "NP_006008.1:p.His847Arg"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696586",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
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        "protein": {
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          },
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            "hgvs": "NP_006008.1:p.His847Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}