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  "communityStandardTitle": [
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      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_011535117.3:c.3661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533419.1:p.Gln1221Ter",
        "hgvsWellDefined": "XP_011533419.1:p.Gln1221_Ile1433delinsGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3818,
          "referenceAllele": "C",
          "start": 3817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "XM_017020627.1:c.3661C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876116.1:p.Gln1221Ter",
        "hgvsWellDefined": "XP_016876116.1:p.Gln1221_Ile1433delinsGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825038888",
      "coordinates": [
        {
          "allele": "T",
          "end": 3870,
          "referenceAllele": "C",
          "start": 3869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_000053.4:c.3757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000044.2:p.Gln1253Ter",
        "hgvsWellDefined": "NP_000044.2:p.Gln1253_Ile1465delinsGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000242839.10:c.3757C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000053.4:c.3757C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000242839.5:p.Gln1253Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000044.2:p.Gln1253Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825280118",
      "coordinates": [
        {
          "allele": "T",
          "end": 3249,
          "referenceAllele": "C",
          "start": 3248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001005918.3:c.3136C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005918.1:p.Gln1046Ter",
        "hgvsWellDefined": "NP_001005918.1:p.Gln1046_Ile1258delinsGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827330142",
      "coordinates": [
        {
          "allele": "T",
          "end": 3618,
          "referenceAllele": "C",
          "start": 3617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330579.2:c.3505C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317508.1:p.Gln1169Ter",
        "hgvsWellDefined": "NP_001317508.1:p.Gln1169_Ile1381delinsGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687016"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826318436",
      "coordinates": [
        {
          "allele": "T",
          "end": 3537,
          "referenceAllele": "C",
          "start": 3536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001243182.2:c.3424C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230111.1:p.Gln1142Ter",
        "hgvsWellDefined": "NP_001230111.1:p.Gln1142_Ile1354delinsGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827327050",
      "coordinates": [
        {
          "allele": "T",
          "end": 3636,
          "referenceAllele": "C",
          "start": 3635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000870",
      "geneNCBI_id": 540,
      "geneSymbol": "ATP7B",
      "hgvs": [
        "NM_001330578.2:c.3523C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317507.1:p.Gln1175Ter",
        "hgvsWellDefined": "NP_001317507.1:p.Gln1175_Ile1387delinsGluLeuGlnAsnLysGlyLysLysValAlaMetValGlyAspGlyValAsnAspSerProAlaLeuAlaGlnAlaAspMetGlyValAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleHisLeuSerLysArgThrValArgArgIleArgIleAsnLeuValLeuAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyIleValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuGlnLeuLysCysTyrLysLysProAspLeuGluArgTyrGluAlaGlnAlaHisGlyHisMetLysProLeuThrAlaSerGlnValSerValHisIleGlyMetAspAspArgTrpArgAspSerProArgAlaThrProTrpAspGlnValSerTyrValSerGlnValSerLeuSerSerLeuThrSerAspLysProSerArgHisSerAlaAlaAlaAspAspAspGlyAspLysTrpSerLeuLeuLeuAsnGlyArgAspGluGluGlnTyrIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718719"
    }
  ],
  "type": "nucleotide"
}