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  "@id": "http://reg.genome.network/allele/CA406044833",
  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/944204",
        "RCV": [
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        "variationId": 944204
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      "referenceSequence": "http://reg.genome.network/refseq/RS767901"
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      "referenceSequence": "http://reg.genome.network/refseq/RS255118"
    },
    {
      "coordinates": [
        {
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    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS365093"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
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          "start": 1992
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      "referenceSequence": "http://reg.genome.network/refseq/RS398043"
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    {
      "@id": "http://reg.genome.network/allele/PA2826377101",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687021",
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        {
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      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Gln657Ter",
        "hgvsWellDefined": "NP_001243143.1:p.Gln657_Tyr1026delinsValAsnProArgAspAlaLysAlaCysValIleHisGlyThrAspLeuLysAspPheThrSerGluGlnIleAspGluIleLeuGlnAsnHisThrGluIleValPheAlaArgThrSerProGlnGlnLysLeuIleIleValGluGlyCysGlnArgGlnGlyAlaIleValAlaValThrGlyAspGlyValAsnAspSerProAlaLeuLysLysAlaAspIleGlyValAlaMetGlyIleAlaGlySerAspValSerLysGlnAlaAlaAspMetIleLeuLeuAspAspAsnPheAlaSerIleValThrGlyValGluGluGlyArgLeuIlePheAspAsnLeuLysLysSerIleAlaTyrThrLeuThrSerAsnIleProGluIleThrProPheLeuLeuPheIleMetAlaAsnIleProLeuProLeuGlyThrIleThrIleLeuCysIleAspLeuGlyThrAspMetValProAlaIleSerLeuAlaTyrGluAlaAlaGluSerAspIleMetLysArgGlnProArgAsnProArgThrAspLysLeuValAsnGluArgLeuIleSerMetAlaTyrGlyGlnIleGlyMetIleGlnAlaLeuGlyGlyPhePheSerTyrPheValIleLeuAlaGluAsnGlyPheLeuProGlyAsnLeuValGlyIleArgLeuAsnTrpAspAspArgThrValAsnAspLeuGluAspSerTyrGlyGlnGlnTrpThrTyrGluGlnArgLysValValGluPheThrCysHisThrAlaPhePheValSerIleValValValGlnTrpAlaAspLeuIleIleCysLysThrArgArgAsnSerValPheGlnGlnGlyMetLysAsnLysIleLeuIlePheGlyLeuPheGluGluThrAlaLeuAlaAlaPheLeuSerTyrCysProGlyMetAspValAlaLeuArgMetTyrProLeuLysProSerTrpTrpPheCysAlaPheProTyrSerPheLeuIlePheValTyrAspGluIleArgLysLeuIleLeuArgArgAsnProGlyGlyTrpValGluLysGluThrTyrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019135"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295309",
      "coordinates": [
        {
          "allele": "T",
          "end": 2130,
          "referenceAllele": "C",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.4:c.1930C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Gln644Ter",
        "hgvsWellDefined": "NP_689509.1:p.Gln644_Tyr1013delinsValAsnProArgAspAlaLysAlaCysValIleHisGlyThrAspLeuLysAspPheThrSerGluGlnIleAspGluIleLeuGlnAsnHisThrGluIleValPheAlaArgThrSerProGlnGlnLysLeuIleIleValGluGlyCysGlnArgGlnGlyAlaIleValAlaValThrGlyAspGlyValAsnAspSerProAlaLeuLysLysAlaAspIleGlyValAlaMetGlyIleAlaGlySerAspValSerLysGlnAlaAlaAspMetIleLeuLeuAspAspAsnPheAlaSerIleValThrGlyValGluGluGlyArgLeuIlePheAspAsnLeuLysLysSerIleAlaTyrThrLeuThrSerAsnIleProGluIleThrProPheLeuLeuPheIleMetAlaAsnIleProLeuProLeuGlyThrIleThrIleLeuCysIleAspLeuGlyThrAspMetValProAlaIleSerLeuAlaTyrGluAlaAlaGluSerAspIleMetLysArgGlnProArgAsnProArgThrAspLysLeuValAsnGluArgLeuIleSerMetAlaTyrGlyGlnIleGlyMetIleGlnAlaLeuGlyGlyPhePheSerTyrPheValIleLeuAlaGluAsnGlyPheLeuProGlyAsnLeuValGlyIleArgLeuAsnTrpAspAspArgThrValAsnAspLeuGluAspSerTyrGlyGlnGlnTrpThrTyrGluGlnArgLysValValGluPheThrCysHisThrAlaPhePheValSerIleValValValGlnTrpAlaAspLeuIleIleCysLysThrArgArgAsnSerValPheGlnGlnGlyMetLysAsnLysIleLeuIlePheGlyLeuPheGluGluThrAlaLeuAlaAlaPheLeuSerTyrCysProGlyMetAspValAlaLeuArgMetTyrProLeuLysProSerTrpTrpPheCysAlaPheProTyrSerPheLeuIlePheValTyrAspGluIleArgLysLeuIleLeuArgArgAsnProGlyGlyTrpValGluLysGluThrTyrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "C",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "XM_011526991.1:c.1840C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525293.1:p.Gln614Ter",
        "hgvsWellDefined": "XP_011525293.1:p.Gln614_Tyr983delinsValAsnProArgAspAlaLysAlaCysValIleHisGlyThrAspLeuLysAspPheThrSerGluGlnIleAspGluIleLeuGlnAsnHisThrGluIleValPheAlaArgThrSerProGlnGlnLysLeuIleIleValGluGlyCysGlnArgGlnGlyAlaIleValAlaValThrGlyAspGlyValAsnAspSerProAlaLeuLysLysAlaAspIleGlyValAlaMetGlyIleAlaGlySerAspValSerLysGlnAlaAlaAspMetIleLeuLeuAspAspAsnPheAlaSerIleValThrGlyValGluGluGlyArgLeuIlePheAspAsnLeuLysLysSerIleAlaTyrThrLeuThrSerAsnIleProGluIleThrProPheLeuLeuPheIleMetAlaAsnIleProLeuProLeuGlyThrIleThrIleLeuCysIleAspLeuGlyThrAspMetValProAlaIleSerLeuAlaTyrGluAlaAlaGluSerAspIleMetLysArgGlnProArgAsnProArgThrAspLysLeuValAsnGluArgLeuIleSerMetAlaTyrGlyGlnIleGlyMetIleGlnAlaLeuGlyGlyPhePheSerTyrPheValIleLeuAlaGluAsnGlyPheLeuProGlyAsnLeuValGlyIleArgLeuAsnTrpAspAspArgThrValAsnAspLeuGluAspSerTyrGlyGlnGlnTrpThrTyrGluGlnArgLysValValGluPheThrCysHisThrAlaPhePheValSerIleValValValGlnTrpAlaAspLeuIleIleCysLysThrArgArgAsnSerValPheGlnGlnGlyMetLysAsnLysIleLeuIlePheGlyLeuPheGluGluThrAlaLeuAlaAlaPheLeuSerTyrCysProGlyMetAspValAlaLeuArgMetTyrProLeuLysProSerTrpTrpPheCysAlaPheProTyrSerPheLeuIlePheValTyrAspGluIleArgLysLeuIleLeuArgArgAsnProGlyGlyTrpValGluLysGluThrTyrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830295309",
      "coordinates": [
        {
          "allele": "T",
          "end": 2084,
          "referenceAllele": "C",
          "start": 2083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_152296.5:c.1930C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689509.1:p.Gln644Ter",
        "hgvsWellDefined": "NP_689509.1:p.Gln644_Tyr1013delinsValAsnProArgAspAlaLysAlaCysValIleHisGlyThrAspLeuLysAspPheThrSerGluGlnIleAspGluIleLeuGlnAsnHisThrGluIleValPheAlaArgThrSerProGlnGlnLysLeuIleIleValGluGlyCysGlnArgGlnGlyAlaIleValAlaValThrGlyAspGlyValAsnAspSerProAlaLeuLysLysAlaAspIleGlyValAlaMetGlyIleAlaGlySerAspValSerLysGlnAlaAlaAspMetIleLeuLeuAspAspAsnPheAlaSerIleValThrGlyValGluGluGlyArgLeuIlePheAspAsnLeuLysLysSerIleAlaTyrThrLeuThrSerAsnIleProGluIleThrProPheLeuLeuPheIleMetAlaAsnIleProLeuProLeuGlyThrIleThrIleLeuCysIleAspLeuGlyThrAspMetValProAlaIleSerLeuAlaTyrGluAlaAlaGluSerAspIleMetLysArgGlnProArgAsnProArgThrAspLysLeuValAsnGluArgLeuIleSerMetAlaTyrGlyGlnIleGlyMetIleGlnAlaLeuGlyGlyPhePheSerTyrPheValIleLeuAlaGluAsnGlyPheLeuProGlyAsnLeuValGlyIleArgLeuAsnTrpAspAspArgThrValAsnAspLeuGluAspSerTyrGlyGlnGlnTrpThrTyrGluGlnArgLysValValGluPheThrCysHisThrAlaPhePheValSerIleValValValGlnTrpAlaAspLeuIleIleCysLysThrArgArgAsnSerValPheGlnGlnGlyMetLysAsnLysIleLeuIlePheGlyLeuPheGluGluThrAlaLeuAlaAlaPheLeuSerTyrCysProGlyMetAspValAlaLeuArgMetTyrProLeuLysProSerTrpTrpPheCysAlaPheProTyrSerPheLeuIlePheValTyrAspGluIleArgLysLeuIleLeuArgArgAsnProGlyGlyTrpValGluLysGluThrTyrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526630",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648268.1:c.1930C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152296.5:c.1930C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498113.1:p.Gln644Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689509.1:p.Gln644Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139687021",
      "coordinates": [
        {
          "allele": "T",
          "end": 2123,
          "referenceAllele": "C",
          "start": 2122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256214.2:c.1969C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243143.1:p.Gln657Ter",
        "hgvsWellDefined": "NP_001243143.1:p.Gln657_Tyr1026delinsValAsnProArgAspAlaLysAlaCysValIleHisGlyThrAspLeuLysAspPheThrSerGluGlnIleAspGluIleLeuGlnAsnHisThrGluIleValPheAlaArgThrSerProGlnGlnLysLeuIleIleValGluGlyCysGlnArgGlnGlyAlaIleValAlaValThrGlyAspGlyValAsnAspSerProAlaLeuLysLysAlaAspIleGlyValAlaMetGlyIleAlaGlySerAspValSerLysGlnAlaAlaAspMetIleLeuLeuAspAspAsnPheAlaSerIleValThrGlyValGluGluGlyArgLeuIlePheAspAsnLeuLysLysSerIleAlaTyrThrLeuThrSerAsnIleProGluIleThrProPheLeuLeuPheIleMetAlaAsnIleProLeuProLeuGlyThrIleThrIleLeuCysIleAspLeuGlyThrAspMetValProAlaIleSerLeuAlaTyrGluAlaAlaGluSerAspIleMetLysArgGlnProArgAsnProArgThrAspLysLeuValAsnGluArgLeuIleSerMetAlaTyrGlyGlnIleGlyMetIleGlnAlaLeuGlyGlyPhePheSerTyrPheValIleLeuAlaGluAsnGlyPheLeuProGlyAsnLeuValGlyIleArgLeuAsnTrpAspAspArgThrValAsnAspLeuGluAspSerTyrGlyGlnGlnTrpThrTyrGluGlnArgLysValValGluPheThrCysHisThrAlaPhePheValSerIleValValValGlnTrpAlaAspLeuIleIleCysLysThrArgArgAsnSerValPheGlnGlnGlyMetLysAsnLysIleLeuIlePheGlyLeuPheGluGluThrAlaLeuAlaAlaPheLeuSerTyrCysProGlyMetAspValAlaLeuArgMetTyrProLeuLysProSerTrpTrpPheCysAlaPheProTyrSerPheLeuIlePheValTyrAspGluIleArgLysLeuIleLeuArgArgAsnProGlyGlyTrpValGluLysGluThrTyrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826377101",
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "C",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000801",
      "geneNCBI_id": 478,
      "geneSymbol": "ATP1A3",
      "hgvs": [
        "NM_001256213.2:c.1963C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001243142.1:p.Gln655Ter",
        "hgvsWellDefined": "NP_001243142.1:p.Gln655_Tyr1024delinsValAsnProArgAspAlaLysAlaCysValIleHisGlyThrAspLeuLysAspPheThrSerGluGlnIleAspGluIleLeuGlnAsnHisThrGluIleValPheAlaArgThrSerProGlnGlnLysLeuIleIleValGluGlyCysGlnArgGlnGlyAlaIleValAlaValThrGlyAspGlyValAsnAspSerProAlaLeuLysLysAlaAspIleGlyValAlaMetGlyIleAlaGlySerAspValSerLysGlnAlaAlaAspMetIleLeuLeuAspAspAsnPheAlaSerIleValThrGlyValGluGluGlyArgLeuIlePheAspAsnLeuLysLysSerIleAlaTyrThrLeuThrSerAsnIleProGluIleThrProPheLeuLeuPheIleMetAlaAsnIleProLeuProLeuGlyThrIleThrIleLeuCysIleAspLeuGlyThrAspMetValProAlaIleSerLeuAlaTyrGluAlaAlaGluSerAspIleMetLysArgGlnProArgAsnProArgThrAspLysLeuValAsnGluArgLeuIleSerMetAlaTyrGlyGlnIleGlyMetIleGlnAlaLeuGlyGlyPhePheSerTyrPheValIleLeuAlaGluAsnGlyPheLeuProGlyAsnLeuValGlyIleArgLeuAsnTrpAspAspArgThrValAsnAspLeuGluAspSerTyrGlyGlnGlnTrpThrTyrGluGlnArgLysValValGluPheThrCysHisThrAlaPhePheValSerIleValValValGlnTrpAlaAspLeuIleIleCysLysThrArgArgAsnSerValPheGlnGlnGlyMetLysAsnLysIleLeuIlePheGlyLeuPheGluGluThrAlaLeuAlaAlaPheLeuSerTyrCysProGlyMetAspValAlaLeuArgMetTyrProLeuLysProSerTrpTrpPheCysAlaPheProTyrSerPheLeuIlePheValTyrAspGluIleArgLysLeuIleLeuArgArgAsnProGlyGlyTrpValGluLysGluThrTyrTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714730"
    }
  ],
  "type": "nucleotide"
}