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          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "XR_938397.2:n.486del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS611908"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 333,
          "endIntronDirection": "+",
          "endIntronOffset": 6287,
          "referenceAllele": "G",
          "start": 333,
          "startIntronDirection": "+",
          "startIntronOffset": 6286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199973.2:c.300+6287del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186902.2:n.300+6287del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664003"
    },
    {
      "coordinates": [
        {
          "allele": "",
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          "endIntronDirection": "+",
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          "startIntronDirection": "+",
          "startIntronOffset": 9921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN048349",
      "geneNCBI_id": 100529097,
      "geneSymbol": "RPL36A-HNRNPH2",
      "hgvs": [
        "NM_001199974.2:c.177+9922del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001186903.2:n.177+9922del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS664004"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
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      ],
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        "hgvs": "NP_000160.1:p.Pro146LeufsTer19",
        "hgvsWellDefined": "NP_000160.1:p.[Pro146Leu;Ser148_Tyr152delinsValLeu;Ile154_Gln157delinsThrThr;Phe159_Asp165delinsLeuMetProArgPro;Lys168_Asp170delinsThr;Cys172_Asp175delinsGlu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000160.1:p.Pro146LeufsTer19"
          }
        }
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    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN004296",
      "geneNCBI_id": 2717,
      "geneSymbol": "GLA",
      "hgvs": [
        "NR_164783.1:n.459del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS705867"
    }
  ],
  "type": "nucleotide"
}