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        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Ala413Val"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Ala413Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687735",
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.800C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Ala267Val",
        "hgvsWellDefined": "NP_001271219.1:p.Ala267Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822280",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "C",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.668C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Ala223Val",
        "hgvsWellDefined": "NP_001280033.1:p.Ala223Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822517",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.581C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Ala194Val",
        "hgvsWellDefined": "NP_001280034.1:p.Ala194Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.1268C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}