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          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 1445,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742034.1:n.1446-15T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591906"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "endIntronDirection": "-",
          "endIntronOffset": 14,
          "referenceAllele": "T",
          "start": 1445,
          "startIntronDirection": "-",
          "startIntronOffset": 15
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "XR_001742035.1:n.1446-15T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1570,
          "endIntronDirection": "-",
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          "start": 1570,
          "startIntronDirection": "-",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002950",
      "geneNCBI_id": 1767,
      "geneSymbol": "DNAH5",
      "hgvs": [
        "NM_001369.3:c.1321-15T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001360.1:n.1321-15T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721135",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000265104.5:c.1321-15T>C"
          },
          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
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          }
        }
      }
    }
  ],
  "type": "nucleotide"
}