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      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740007.1:n.5960_5963del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590267"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5963,
          "referenceAllele": "CGAA",
          "start": 5959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740008.1:n.5960_5963del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590268"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5963,
          "referenceAllele": "CGAA",
          "start": 5959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "XR_001740009.1:n.5960_5963del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS590269"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 5990,
          "referenceAllele": "CGAA",
          "start": 5986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002214",
      "geneNCBI_id": 1294,
      "geneSymbol": "COL7A1",
      "hgvs": [
        "NM_000094.4:c.5924_5927del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000085.1:p.Glu1975GlyfsTer29",
        "hgvsWellDefined": "NP_000085.1:p.[Glu1975_Gly1979delinsGlyValGluAla;Lys1981Arg;Asp1983_Gly1988delinsThrGlnAlaAsnArgAla;Pro1990_Gly1994delinsGlnAlaArgArgAla;Ile1996_Gly1997delinsSerAla;Pro1999_Arg2002delinsLeuGluAsnAla;Leu2004_Lys2005del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710799",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000681320.1:c.5924_5927del"
          },
          "RefSeq": {
            "hgvs": "NM_000094.4:c.5924_5927del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000506558.1:p.Glu1975GlyfsTer29"
          },
          "RefSeq": {
            "hgvs": "NP_000085.1:p.Glu1975GlyfsTer29"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}