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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.1144C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.1144C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Arg382Cys"
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          "RefSeq": {
            "hgvs": "NP_000172.2:p.Arg382Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687717",
      "coordinates": [
        {
          "allele": "T",
          "end": 736,
          "referenceAllele": "C",
          "start": 735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.706C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Arg236Cys",
        "hgvsWellDefined": "NP_001271219.1:p.Arg236Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822263",
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "referenceAllele": "C",
          "start": 988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.574C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Arg192Cys",
        "hgvsWellDefined": "NP_001280033.1:p.Arg192Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822499",
      "coordinates": [
        {
          "allele": "T",
          "end": 846,
          "referenceAllele": "C",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.487C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Arg163Cys",
        "hgvsWellDefined": "NP_001280034.1:p.Arg163Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1174C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}