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  "@id": "http://reg.genome.network/allele/CA369641523",
  "communityStandardTitle": [
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        "RCV": [
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      "proteinEffect": {
        "hgvs": "XP_011514083.1:p.Glu291Ter",
        "hgvsWellDefined": "XP_011514083.1:p.Glu291_Leu996delinsValThrSerThrTyrPheAlaValArgAsnTyrTrpArgGlyPhePheAlaAlaThrPheSerAlaPheValPheArgValLeuAlaValTrpAsnLysAspAlaValThrIleThrAlaLeuPheArgThrAsnPheArgMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluValSerCysTrpTrpGlyHisMetLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011739.1:c.421G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867228.1:p.Glu141Ter",
        "hgvsWellDefined": "XP_016867228.1:p.Glu141_Leu846delinsValThrSerThrTyrPheAlaValArgAsnTyrTrpArgGlyPhePheAlaAlaThrPheSerAlaPheValPheArgValLeuAlaValTrpAsnLysAspAlaValThrIleThrAlaLeuPheArgThrAsnPheArgMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluValSerCysTrpTrpGlyHisMetLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "G",
          "start": 658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011740.1:c.421G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867229.1:p.Glu141Ter",
        "hgvsWellDefined": "XP_016867229.1:p.Glu141_Leu838delinsValThrSerThrTyrPheAlaValArgAsnTyrTrpArgGlyPhePheAlaAlaThrPheSerAlaPheValPheArgValLeuAlaValTrpAsnLysAspAlaValThrIleThrAlaLeuPheArgThrAsnPheArgMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741809857",
      "coordinates": [
        {
          "allele": "T",
          "end": 973,
          "referenceAllele": "G",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.3:c.871G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.3:p.Glu291Ter",
        "hgvsWellDefined": "NP_000074.3:p.Glu291_Leu988delinsValThrSerThrTyrPheAlaValArgAsnTyrTrpArgGlyPhePheAlaAlaThrPheSerAlaPheValPheArgValLeuAlaValTrpAsnLysAspAlaValThrIleThrAlaLeuPheArgThrAsnPheArgMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.871G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.871G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Glu291Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Glu291Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "G",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.2:n.976G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702503"
    }
  ],
  "type": "nucleotide"
}