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            "hgvs": "ENST00000304895.9:c.454G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.454G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Asp152Asn"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Asp152Asn"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916014200",
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.454G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Asp152Asn",
        "hgvsWellDefined": "NP_001271219.1:p.Asp152Asn"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 312,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.12-313G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:n.12-313G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 370,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.67+370G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:n.67+370G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 484,
          "referenceAllele": "G",
          "start": 483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.484G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}