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      "referenceSequence": "http://reg.genome.network/refseq/RS662341",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304895.9:c.959A>C"
          },
          "RefSeq": {
            "hgvs": "NM_000181.4:c.959A>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000302728.4:p.Tyr320Ser"
          },
          "RefSeq": {
            "hgvs": "NP_000172.2:p.Tyr320Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826687673",
      "coordinates": [
        {
          "allele": "C",
          "end": 551,
          "referenceAllele": "A",
          "start": 550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001284290.2:c.521A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001271219.1:p.Tyr174Ser",
        "hgvsWellDefined": "NP_001271219.1:p.Tyr174Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682044"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822218",
      "coordinates": [
        {
          "allele": "C",
          "end": 804,
          "referenceAllele": "A",
          "start": 803
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293104.2:c.389A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280033.1:p.Tyr130Ser",
        "hgvsWellDefined": "NP_001280033.1:p.Tyr130Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682970"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826822456",
      "coordinates": [
        {
          "allele": "C",
          "end": 661,
          "referenceAllele": "A",
          "start": 660
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NM_001293105.2:c.302A>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280034.1:p.Tyr101Ser",
        "hgvsWellDefined": "NP_001280034.1:p.Tyr101Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682971"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 989,
          "referenceAllele": "A",
          "start": 988
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      ],
      "gene": "http://reg.genome.network/gene/GN004696",
      "geneNCBI_id": 2990,
      "geneSymbol": "GUSB",
      "hgvs": [
        "NR_120531.2:n.989A>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703205"
    }
  ],
  "type": "nucleotide"
}