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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256345"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 274,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002531",
      "geneNCBI_id": 8722,
      "geneSymbol": "CTSF",
      "hgvs": [
        "ENST00000526010.1:c.-63-275C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435822.1:n.-63-275C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS351940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851650",
      "coordinates": [
        {
          "allele": "T",
          "end": 220,
          "referenceAllele": "C",
          "start": 219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002531",
      "geneNCBI_id": 8722,
      "geneSymbol": "CTSF",
      "hgvs": [
        "NM_003793.3:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003784.2:p.Arg44Cys",
        "hgvsWellDefined": "NP_003784.2:p.Arg44Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851650",
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN002531",
      "geneNCBI_id": 8722,
      "geneSymbol": "CTSF",
      "hgvs": [
        "NM_003793.4:c.130C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003784.2:p.Arg44Cys",
        "hgvsWellDefined": "NP_003784.2:p.Arg44Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666185",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310325.10:c.130C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003793.4:c.130C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310832.5:p.Arg44Cys"
          },
          "RefSeq": {
            "hgvs": "NP_003784.2:p.Arg44Cys"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}