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  "communityStandardTitle": [
    "NM_022089.4(ATP13A2):c.3136G>T (p.Glu1046Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075283",
        "RCV": [
          "RCV001388838"
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        "@id": "http://myvariant.info/v1/variant/chr1:g.17313399C>A?assembly=hg19",
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      "referenceSequence": "http://reg.genome.network/refseq/RS057382"
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      "referenceSequence": "http://reg.genome.network/refseq/RS057384"
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      "referenceSequence": "http://reg.genome.network/refseq/RS057386"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057387"
    },
    {
      "coordinates": [
        {
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      "proteinEffect": {
        "hgvs": "XP_006710575.1:p.Glu1040Ter",
        "hgvsWellDefined": "XP_006710575.1:p.Glu1040_Val1196delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3328,
          "referenceAllele": "G",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_006710513.1:c.3094G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710576.1:p.Glu1032Ter",
        "hgvsWellDefined": "XP_006710576.1:p.Glu1032_Val1188delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3355,
          "referenceAllele": "G",
          "start": 3354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541128.1:c.3121G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539430.1:p.Glu1041Ter",
        "hgvsWellDefined": "XP_011539430.1:p.Glu1041_Val1197delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3163,
          "referenceAllele": "G",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_011541129.1:c.2929G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539431.1:p.Glu977Ter",
        "hgvsWellDefined": "XP_011539431.1:p.Glu977_Val1133delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108072"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3355,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000844.1:c.3121G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856333.1:p.Glu1041Ter",
        "hgvsWellDefined": "XP_016856333.1:p.Glu1041_Arg1175delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3352,
          "referenceAllele": "G",
          "start": 3351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000845.1:c.3118G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856334.1:p.Glu1040Ter",
        "hgvsWellDefined": "XP_016856334.1:p.Glu1040_Arg1174delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557125"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3328,
          "referenceAllele": "G",
          "start": 3327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000846.1:c.3094G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856335.1:p.Glu1032Ter",
        "hgvsWellDefined": "XP_016856335.1:p.Glu1032_Arg1166delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3325,
          "referenceAllele": "G",
          "start": 3324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000847.1:c.3091G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856336.1:p.Glu1031Ter",
        "hgvsWellDefined": "XP_016856336.1:p.Glu1031_Arg1165delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3253,
          "referenceAllele": "G",
          "start": 3252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000848.1:c.3019G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856337.1:p.Glu1007Ter",
        "hgvsWellDefined": "XP_016856337.1:p.Glu1007_Arg1141delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3238,
          "referenceAllele": "G",
          "start": 3237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000849.1:c.3004G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856338.1:p.Glu1002Ter",
        "hgvsWellDefined": "XP_016856338.1:p.Glu1002_Arg1136delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3163,
          "referenceAllele": "G",
          "start": 3162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "XM_017000850.1:c.2929G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856339.1:p.Glu977Ter",
        "hgvsWellDefined": "XP_016856339.1:p.Glu977_Arg1111delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557130"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499288757",
      "coordinates": [
        {
          "allele": "T",
          "end": 3326,
          "referenceAllele": "G",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_022089.4:c.3136G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071372.1:p.Glu1046Ter",
        "hgvsWellDefined": "NP_071372.1:p.Glu1046_Arg1180delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670368",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000326735.13:c.3136G>T"
          },
          "RefSeq": {
            "hgvs": "NM_022089.4:c.3136G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327214.8:p.Glu1046Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071372.1:p.Glu1046Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825835863",
      "coordinates": [
        {
          "allele": "T",
          "end": 3311,
          "referenceAllele": "G",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141973.3:c.3121G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135445.1:p.Glu1041Ter",
        "hgvsWellDefined": "NP_001135445.1:p.Glu1041_Arg1175delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnValProPheLeuValAlaLeuAlaLeuLeuSerSerValLeuValGlyLeuValLeuValProGlyLeuLeuGlnGlyProLeuAlaLeuArgAsnIleThrAspThrGlyPheLysLeuLeuLeuLeuGlyLeuValThrLeuAsnPheValGlyAlaPheMetLeuGluSerValLeuAspGlnCysLeuProAlaCysLeuArgArgLeuArgProLysArgAlaSerLysLysArgPheLysGlnLeuGluArgGluLeuAlaGluGlnProTrpProProLeuProAlaGlyProLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677479"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825837308",
      "coordinates": [
        {
          "allele": "T",
          "end": 3194,
          "referenceAllele": "G",
          "start": 3193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NM_001141974.3:c.3004G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135446.1:p.Glu1002Ter",
        "hgvsWellDefined": "NP_001135446.1:p.Glu1002_Val1158delinsAsnThrValValPheSerLeuSerSerPheGlnTyrLeuIleLeuAlaAlaAlaValSerLysGlyAlaProPheArgArgProLeuTyrThrAsnGluArgAlaArgProValProProArgLeuProAlaProProProAlaGlnAlaGlyLeuGlnGluAlaLeuGlnAlaAlaGlyThrArgAlaGlyArgAlaAlaLeuAlaAlaAlaAlaArgArgProProGluValValGlnAlaHisGlyHisProArgHisTrpAsnSerLeuProLeuSerHisGlnLeuAspProSerProAlaThrProProProProProProThrSerLeuArgLeuAlaThrValTyrThrProProProArgProProProProTrpGlySerValAspTyrCysProLeuProTrpThrIleProArgArgGlyGlySerProGlnLeuProSerValLeuLeuSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677480"
    }
  ],
  "type": "nucleotide"
}