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  "communityStandardTitle": [
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        "hgvs": "ENSP00000442284.2:p.Gln95Ter",
        "hgvsWellDefined": "ENSP00000442284.2:p.Gln95_Val424delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaLeuLysAlaGluThrAsnLysIleHisProValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340041",
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.2:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Gln95Ter",
        "hgvsWellDefined": "NP_758454.1:p.Gln95_Asp418delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "C",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.1:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Gln95Ter",
        "hgvsWellDefined": "XP_011529986.1:p.Gln95_Asp418delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.1:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Gln95Ter",
        "hgvsWellDefined": "XP_011529987.1:p.Gln95_Asp418delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA340041",
      "coordinates": [
        {
          "allele": "T",
          "end": 371,
          "referenceAllele": "C",
          "start": 370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_172250.3:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_758454.1:p.Gln95Ter",
        "hgvsWellDefined": "NP_758454.1:p.Gln95_Asp418delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.283C>T"
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.283C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497008.1:p.Gln95Ter"
          },
          "RefSeq": {
            "hgvs": "NP_758454.1:p.Gln95Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531684.3:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529986.1:p.Gln95Ter",
        "hgvsWellDefined": "XP_011529986.1:p.Gln95_Asp418delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 489,
          "referenceAllele": "C",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531685.2:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529987.1:p.Gln95Ter",
        "hgvsWellDefined": "XP_011529987.1:p.Gln95_Asp418delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "referenceAllele": "C",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.2:c.-501C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011529988.1:n.-501C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 613,
          "referenceAllele": "C",
          "start": 612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_001375644.1:c.283C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362573.1:p.Gln95Ter",
        "hgvsWellDefined": "NP_001362573.1:p.Gln95_Asp418delinsGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693733"
    }
  ],
  "type": "nucleotide"
}