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        "hgvsWellDefined": "NP_000422.1:p.Tyr149_Leu396delinsSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006493"
    },
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      "@id": "http://reg.genome.network/allele/PA915975919",
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "C",
          "start": 630
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      ],
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        "NM_001114185.2:c.447C>G"
      ],
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        "hgvsWellDefined": "NP_001107657.1:p.Tyr149_Leu396delinsSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011315"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1524,
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          "startIntronOffset": 1523
        }
      ],
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      "hgvs": [
        "NM_001301182.1:c.371+1524C>G"
      ],
      "proteinEffect": {
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    },
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      "coordinates": [
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          "start": 679
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      ],
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      "hgvs": [
        "XM_011538372.1:c.447C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011536674.1:p.Tyr149_Leu396delinsSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "endIntronDirection": "+",
          "endIntronOffset": 1524,
          "referenceAllele": "C",
          "start": 459,
          "startIntronDirection": "+",
          "startIntronOffset": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
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      "hgvs": [
        "XM_017019313.2:c.371+1524C>G"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.447C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.Tyr149Ter",
        "hgvsWellDefined": "XP_016874803.1:p.Tyr149_Leu396delinsSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_024448982.1:c.447C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304750.1:p.Tyr149Ter",
        "hgvsWellDefined": "XP_024304750.1:p.Tyr149_Phe389delinsSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluValArgAlaCysLeuGlnGluProGlyLeuLeuSerProHisHisCysProArgGlnTrpLeuCysAsnLeuAlaValLeuArgIleProArgLysLeuAlaHisArgGlyGlnAspLeuProLeuAlaTyrAlaLeuSerTrpAlaGlnValCysAlaCysHisIleSerValSerTyrPheGlnAlaSerSerTrpValIleProSerAsnTrpGluSerAlaArgGluAlaArgAlaTrpLeuValLeuSerAlaMetGluThrGlyLeuGlyHisPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA149838",
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "C",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.447C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Tyr149Ter",
        "hgvsWellDefined": "NP_000422.1:p.Tyr149_Leu396delinsSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.447C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.447C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Tyr149Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Tyr149Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA915975919",
      "coordinates": [
        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
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      "hgvs": [
        "NM_001114185.3:c.447C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001107657.1:p.Tyr149_Leu396delinsSerValCysLeuAlaAlaAlaLeuLeuThrValCysGluGluIleProAsnProLeuLysAspGlyAspCysValAsnArgTrpThrLysGluAspLeuGluLeuIleAsnLysTrpAlaPheGlnGlyGluArgMetIleHisGlyAsnProSerGlyValAspAsnAlaValSerThrTrpGlyGlyAlaLeuArgTyrHisGlnGlyLysIleSerSerLeuLysArgSerProAlaLeuGlnIleLeuLeuThrAsnThrLysValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 1524,
          "referenceAllele": "C",
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          "startIntronOffset": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}