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      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NM_000860.6:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000851.2:p.Gln105Ter",
        "hgvsWellDefined": "NP_000851.2:p.Gln105_Gln266delinsIleAsnLeuValSerValIleSerGlyThrTyrLeuGlyLeuAspTyrMetSerLysGlnAsnGlyGlyGluGlyGlyIleIleIleAsnMetSerSerLeuAlaGlyLeuMetProValAlaGlnGlnProValTyrCysAlaSerLysHisGlyIleValGlyPheThrArgSerAlaAlaLeuAlaAlaAsnLeuMetAsnSerGlyValArgLeuAsnAlaIleCysProGlyPheValAsnThrAlaIleLeuGluSerIleGluLysGluGluAsnMetGlyGlnTyrIleGluTyrLysAspHisIleLysAspMetIleLysTyrTyrGlyIleLeuAspProProLeuIleAlaAsnGlyLeuIleThrLeuIleGluAspAspAlaLeuAsnGlyAlaIleMetLysIleThrThrSerLysGlyIleHisPheGlnAspTyrAspThrThrProPheGlnAlaLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662615",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000296522.11:c.313C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000860.6:c.313C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000296522.6:p.Gln105Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000851.2:p.Gln105Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139741336",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NM_001363574.2:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350503.1:p.Gln105Ter",
        "hgvsWellDefined": "NP_001350503.1:p.Gln105_Leu176delinsIleAsnLeuValSerValIleSerGlyThrTyrLeuGlyLeuAspTyrMetSerLysGlnAsnGlyGlyGluGlyGlyIleIleIleAsnMetSerSerLeuAlaGlyIleSerSerValCysArgHisLeuLysThrTrpLeuAlaGluValLeuProSerSerAlaGlySerSerGlnGlyTyrPheArgThrAlaGlyPheLeuPheLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690699"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825909383",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NM_001145816.3:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139288.1:p.Gln105Ter",
        "hgvsWellDefined": "NP_001139288.1:p.Gln105_His178delinsIleAsnLeuValSerValIleSerGlyThrTyrLeuGlyLeuAspTyrMetSerLysGlnAsnGlyGlyGluGlyGlyIleIleIleAsnMetSerSerLeuAlaGlyLeuMetProValAlaGlnGlnProValTyrCysAlaSerLysHisGlyIleValGlyPheThrArgSerAlaAlaProThrIleAspCysGlnTrpIleAspAsnThrHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826381237",
      "coordinates": [
        {
          "allele": "T",
          "end": 350,
          "referenceAllele": "C",
          "start": 349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NM_001256305.2:c.313C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243234.1:p.Gln105Ter",
        "hgvsWellDefined": "NP_001243234.1:p.Gln105_His143delinsIleAsnLeuValSerValIleSerGlyThrTyrLeuGlyLeuAspTyrMetSerLysGlnAsnGlyGlyGluGlyGlyIleIleIleAsnMetSerSerLeuAlaAlaHisHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "+",
          "endIntronOffset": 3962,
          "referenceAllele": "C",
          "start": 254,
          "startIntronDirection": "+",
          "startIntronOffset": 3961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NM_001256306.2:c.217+3962C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243235.1:n.217+3962C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 254,
          "endIntronDirection": "+",
          "endIntronOffset": 3962,
          "referenceAllele": "C",
          "start": 254,
          "startIntronDirection": "+",
          "startIntronOffset": 3961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005154",
      "geneNCBI_id": 3248,
      "geneSymbol": "HPGD",
      "hgvs": [
        "NM_001256307.2:c.-40+3962C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243236.1:n.-40+3962C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714739"
    }
  ],
  "type": "nucleotide"
}