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      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.1264C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.1264C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Gln422Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Gln422Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827194088",
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:p.Gln237Ter",
        "hgvsWellDefined": "NP_001310472.1:p.Gln237_His337delinsAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249206",
      "coordinates": [
        {
          "allele": "T",
          "end": 1504,
          "referenceAllele": "C",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.1282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Gln428Ter",
        "hgvsWellDefined": "NP_001310473.1:p.Gln428_His528delinsAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}