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          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255374.3:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255431.1:p.Arg40Ter",
        "hgvsWellDefined": "XP_005255431.1:p.Arg40_Ser163delinsAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGlyGlyAsnAspHisGluIlePheThrAspProArgThrMetGlyTyrSerValThrAlaProGluAspThrArgArgIleCysGluLeuLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_011522538.1:c.367C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520840.1:p.Arg123Ter",
        "hgvsWellDefined": "XP_011520840.1:p.Arg123_Ser259delinsAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGluIleLeuGluArgAspHisAlaArgLeuLysProArgLeuValTrpLysAsnValIleSerSerValCysCysLeuLeuProAlaLysSerProThrSerThrGlyGlnGlyValLeuProProSerProArgSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 109,
          "referenceAllele": "C",
          "start": 108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_011522539.1:c.-9C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520841.1:n.-9C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "XM_005255374.4:c.118C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255431.1:p.Arg40Ter",
        "hgvsWellDefined": "XP_005255431.1:p.Arg40_Ser163delinsAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGlyGlyAsnAspHisGluIlePheThrAspProArgThrMetGlyTyrSerValThrAlaProGluAspThrArgArgIleCysGluLeuLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534275"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469057",
      "coordinates": [
        {
          "allele": "T",
          "end": 411,
          "referenceAllele": "C",
          "start": 410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NM_000303.3:c.367C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000294.1:p.Arg123Ter",
        "hgvsWellDefined": "NP_000294.1:p.Arg123_Ser246delinsAsnGlyMetLeuAsnValSerProIleGlyArgSerCysSerGlnGluGluArgIleGluPheTyrGluLeuAspLysLysGluAsnIleArgGlnLysPheValAlaAspLeuArgLysGluPheAlaGlyLysGlyLeuThrPheSerIleGlyGlyGlnIleSerPheAspValPheProAspGlyTrpAspLysArgTyrCysLeuArgHisValGluAsnAspGlyTyrLysThrIleTyrPhePheGlyAspLysThrMetProGlyGlyAsnAspHisGluIlePheThrAspProArgThrMetGlyTyrSerValThrAlaProGluAspThrArgArgIleCysGluLeuLeuPheSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268261.9:c.367C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000303.3:c.367C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268261.4:p.Arg123Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000294.1:p.Arg123Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}