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          "referenceAllele": "C",
          "start": 1642,
          "startIntronDirection": "-",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_001290130.2:c.1176-20C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001277059.2:n.1176-20C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1753,
          "endIntronDirection": "-",
          "endIntronOffset": 19,
          "referenceAllele": "C",
          "start": 1753,
          "startIntronDirection": "-",
          "startIntronOffset": 20
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019139",
      "geneNCBI_id": 55624,
      "geneSymbol": "POMGNT1",
      "hgvs": [
        "NM_017739.4:c.1605-20C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060209.4:n.1605-20C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728258",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000371984.8:c.1605-20C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017739.4:c.1605-20C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361052.3:n.1605-20C>T"
          },
          "RefSeq": {
            "hgvs": "NP_060209.4:n.1605-20C>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}