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        "hgvs": "XP_016868539.1:n.-138+25241A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 413,
          "endIntronDirection": "+",
          "endIntronOffset": 49551,
          "referenceAllele": "A",
          "start": 413,
          "startIntronDirection": "+",
          "startIntronOffset": 49550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018634",
      "geneNCBI_id": 137970,
      "geneSymbol": "UNC5D",
      "hgvs": [
        "NM_080872.4:c.103+49551A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_543148.2:n.103+49551A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671782",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000404895.7:c.103+49551A>G"
          },
          "RefSeq": {
            "hgvs": "NM_080872.4:c.103+49551A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385143.2:n.103+49551A>G"
          },
          "RefSeq": {
            "hgvs": "NP_543148.2:n.103+49551A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}