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            "hgvs": "ENST00000265594.9:c.455C>T"
          },
          "RefSeq": {
            "hgvs": "NM_020166.5:c.455C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000265594.4:p.Pro152Leu"
          },
          "RefSeq": {
            "hgvs": "NP_064551.3:p.Pro152Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "endIntronDirection": "-",
          "endIntronOffset": 1044,
          "referenceAllele": "C",
          "start": 288,
          "startIntronDirection": "-",
          "startIntronOffset": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NM_001293273.2:c.141-1045C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280202.1:n.141-1045C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 278,
          "referenceAllele": "C",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120639.2:n.278C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730741"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NR_120640.2:n.1122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730742"
    }
  ],
  "type": "nucleotide"
}