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        "hgvsWellDefined": "XP_011536674.1:p.Lys238_Leu396delinsValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 644,
          "referenceAllele": "A",
          "start": 643
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019313.2:c.556A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874802.1:p.Lys186Ter",
        "hgvsWellDefined": "XP_016874802.1:p.Lys186_Leu344delinsValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "A",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_017019314.1:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016874803.1:p.Lys238Ter",
        "hgvsWellDefined": "XP_016874803.1:p.Lys238_Leu396delinsValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "XM_024448982.1:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024304750.1:p.Lys238Ter",
        "hgvsWellDefined": "XP_024304750.1:p.Lys238_Phe389delinsValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluValArgAlaCysLeuGlnGluProGlyLeuLeuSerProHisHisCysProArgGlnTrpLeuCysAsnLeuAlaValLeuArgIleProArgLysLeuAlaHisArgGlyGlnAspLeuProLeuAlaTyrAlaLeuSerTrpAlaGlnValCysAlaCysHisIleSerValSerTyrPheGlnAlaSerSerTrpValIleProSerAsnTrpGluSerAlaArgGluAlaArgAlaTrpLeuValLeuSerAlaMetGluThrGlyLeuGlyHisPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582547"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825169761",
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "referenceAllele": "A",
          "start": 805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_000431.4:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000422.1:p.Lys238Ter",
        "hgvsWellDefined": "NP_000422.1:p.Lys238_Leu396delinsValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662441",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000228510.8:c.712A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000431.4:c.712A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000228510.3:p.Lys238Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000422.1:p.Lys238Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825570860",
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "A",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001114185.3:c.712A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107657.1:p.Lys238Ter",
        "hgvsWellDefined": "NP_001107657.1:p.Lys238_Leu396delinsValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676743"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826866361",
      "coordinates": [
        {
          "allele": "T",
          "end": 650,
          "referenceAllele": "A",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007530",
      "geneNCBI_id": 4598,
      "geneSymbol": "MVK",
      "hgvs": [
        "NM_001301182.2:c.556A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001288111.1:p.Lys186Ter",
        "hgvsWellDefined": "NP_001288111.1:p.Lys186_Leu344delinsValProArgAsnThrArgAlaLeuValAlaGlyValArgAsnArgLeuLeuLysPheProGluIleValAlaProLeuLeuThrSerIleAspAlaIleSerLeuGluCysGluArgValLeuGlyGluMetGlyGluAlaProAlaProGluGlnTyrLeuValLeuGluGluLeuIleAspMetAsnGlnHisHisLeuAsnAlaLeuGlyValGlyHisAlaSerLeuAspGlnLeuCysGlnValThrArgAlaArgGlyLeuHisSerLysLeuThrGlyAlaGlyGlyGlyGlyCysGlyIleThrLeuLeuLysProGlyLeuGluGlnProGluValGluAlaThrLysGlnAlaLeuThrSerCysGlyPheAspCysLeuGluThrSerIleGlyAlaProGlyValSerIleHisSerAlaThrSerLeuAspSerArgValGlnGlnAlaLeuAspGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS683373"
    }
  ],
  "type": "nucleotide"
}