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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740008.1:n.5424+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5424,
          "endIntronDirection": "+",
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          "referenceAllele": "G",
          "start": 5424,
          "startIntronDirection": "+",
          "startIntronOffset": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740009.1:n.5424+5G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590269"
    },
    {
      "coordinates": [
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          "allele": "A",
          "end": 5451,
          "endIntronDirection": "+",
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          "start": 5451,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "NM_000094.4:c.5388+5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000085.1:n.5388+5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681320.1:c.5388+5G>A"
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          "RefSeq": {
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      }
    }
  ],
  "type": "nucleotide"
}