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  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/218969",
        "RCV": [
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          "RCV000488986",
          "RCV000590153"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000506919.1:n.552C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS338351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
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          "start": 110
        }
      ],
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      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "ENST00000511969.4:c.64C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000427422.1:p.Arg22_Asn260delinsCysTyrHisPheIlePheHisSerSerThrHisLeuGlySerGlyIleProCysAlaGlnProPheAsnSerLeuGlyLeuHisCysThrLysTrpMetLeuLeuSerAspGlyLeuLysArgLysLeuCysValGlnThrThrLeuLysAspHisThrGluGlyLeuSerAspLysGluGlnArgPheValAspLysLeuTyrThrGlyLeuIleGlnGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyTyrGlnLysGlyTyrAsnArgAspGlyArgSerGlySerCysAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342110"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363011"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347869",
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        {
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          "referenceAllele": "C",
          "start": 148
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098717"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347869",
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN018871",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526733",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649156.2:c.64C>T"
          },
          "RefSeq": {
            "hgvs": "NM_172250.3:c.64C>T"
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        },
        "protein": {
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            "hgvs": "ENSP00000497008.1:p.Arg22Ter"
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          "RefSeq": {
            "hgvs": "NP_758454.1:p.Arg22Ter"
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        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 228,
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          "start": 227
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550496"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
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      "geneSymbol": "MMAA",
      "hgvs": [
        "XM_011531686.2:c.-720C>T"
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      "proteinEffect": {
        "hgvs": "XP_011529988.1:n.-720C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS550498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "C",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018871",
      "geneNCBI_id": 166785,
      "geneSymbol": "MMAA",
      "hgvs": [
        "NM_001375644.1:c.64C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362573.1:p.Arg22Ter",
        "hgvsWellDefined": "NP_001362573.1:p.Arg22_Asp418delinsCysTyrHisPheIlePheHisSerSerThrHisLeuGlySerGlyIleProCysAlaGlnProPheAsnSerLeuGlyLeuHisCysThrLysTrpMetLeuLeuSerAspGlyLeuLysArgLysLeuCysValGlnThrThrLeuLysAspHisThrGluGlyLeuSerAspLysGluGlnArgPheValAspLysLeuTyrThrGlyLeuIleGlnGlyGlnArgAlaCysLeuAlaGluAlaIleThrLeuValGluSerThrHisSerArgLysLysGluLeuAlaGlnValLeuLeuGlnLysValLeuLeuTyrHisArgGluGlnGluGlnSerAsnLysGlyLysProLeuAlaPheArgValGlyLeuSerGlyProProGlyAlaGlyLysSerThrPheIleGluTyrPheGlyLysMetLeuThrGluArgGlyHisLysLeuSerValLeuAlaValAspProSerSerCysThrSerGlyGlySerLeuLeuGlyAspLysThrArgMetThrGluLeuSerArgAspMetAsnAlaTyrIleArgProSerProThrArgGlyThrLeuGlyGlyValThrArgThrThrAsnGluAlaIleLeuLeuCysGluGlyAlaGlyTyrAspIleIleLeuIleGluThrValGlyValGlyGlnSerGluPheAlaValAlaAspMetValAspMetPheValLeuLeuLeuProProAlaGlyGlyAspGluLeuGlnGlyIleLysArgGlyIleIleGluMetAlaAspLeuValAlaValThrLysSerAspGlyAspLeuIleValProAlaArgArgIleGlnAlaGluTyrValSerAlaLeuLysLeuLeuArgLysArgSerGlnValTrpLysProLysValIleArgIleSerAlaArgSerGlyGluGlyIleSerGluMetTrpAspLysMetLysAspPheGlnAspLeuMetLeuAlaSerGlyGluLeuThrAlaLysArgArgLysGlnGlnLysValTrpMetTrpAsnLeuIleGlnGluSerValLeuGluHisPheArgThrHisProThrValArgGluGlnIleProLeuLeuGluGlnLysValLeuIleGlyAlaLeuSerProGlyLeuAlaAlaAspPheLeuLeuLysAlaPheLysSerArgAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693733"
    }
  ],
  "type": "nucleotide"
}