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          "RefSeq": {
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          }
        },
        "protein": {
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            "hgvs": "ENSP00000269217.5:p.Gln31="
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          "RefSeq": {
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          }
        }
      }
    },
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      "coordinates": [
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          "endIntronDirection": "+",
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          "startIntronDirection": "+",
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      ],
      "gene": "http://reg.genome.network/gene/GN006483",
      "geneNCBI_id": 3909,
      "geneSymbol": "LAMA3",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS712231"
    },
    {
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          "end": 116,
          "referenceAllele": "C",
          "start": 115
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      "geneNCBI_id": 3909,
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS712232"
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    {
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      "hgvs": [
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      "MANE": {
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        }
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    }
  ],
  "type": "nucleotide"
}