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  "communityStandardTitle": [
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1570137",
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        "id": "COSM1570137"
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        "preferredName": "NM_001127898.4(CLCN5):c.1249C>T (p.Arg417Ter)"
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207996",
        "RCV": [
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          "RCV000381538"
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      "referenceSequence": "http://reg.genome.network/refseq/RS271024"
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    {
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      "proteinEffect": {
        "hgvs": "NP_000075.1:p.Arg347Ter",
        "hgvsWellDefined": "NP_000075.1:p.Arg347_Asn746delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006148"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825662459",
      "coordinates": [
        {
          "allele": "T",
          "end": 1631,
          "referenceAllele": "C",
          "start": 1630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NM_001127898.3:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121370.1:p.Arg417Ter",
        "hgvsWellDefined": "NP_001121370.1:p.Arg417_Asn816delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011709"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NM_001127899.3:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121371.1:p.Arg417Ter",
        "hgvsWellDefined": "NP_001121371.1:p.Arg417_Asn816delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011710"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826601509",
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NM_001282163.1:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269092.1:p.Arg367Ter",
        "hgvsWellDefined": "NP_001269092.1:p.Arg367_Asn766delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "C",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "XM_011543888.1:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542190.1:p.Arg417Ter",
        "hgvsWellDefined": "XP_011542190.1:p.Arg417_Asn840delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysAlaGlnPheLeuProProValLeuCysTrpSerGlyGluPheArgLeuLeuProAspGlyProArgIleArgIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "XM_011543889.1:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011542191.1:p.Arg347Ter",
        "hgvsWellDefined": "XP_011542191.1:p.Arg347_Asn770delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysAlaGlnPheLeuProProValLeuCysTrpSerGlyGluPheArgLeuLeuProAspGlyProArgIleArgIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS110802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "XM_017029257.1:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884746.1:p.Arg421Ter",
        "hgvsWellDefined": "XP_016884746.1:p.Arg421_Asn820delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1902,
          "referenceAllele": "C",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "XM_017029258.1:c.1261C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884747.1:p.Arg421Ter",
        "hgvsWellDefined": "XP_016884747.1:p.Arg421_Asn820delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578834"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825662459",
      "coordinates": [
        {
          "allele": "T",
          "end": 1650,
          "referenceAllele": "C",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NM_001127898.4:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121370.1:p.Arg417Ter",
        "hgvsWellDefined": "NP_001121370.1:p.Arg417_Asn816delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663555",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376091.8:c.1249C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001127898.4:c.1249C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365259.3:p.Arg417Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001121370.1:p.Arg417Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA347317",
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "referenceAllele": "C",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NM_000084.5:c.1039C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000075.1:p.Arg347Ter",
        "hgvsWellDefined": "NP_000075.1:p.Arg347_Asn746delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674692"
    },
    {
      "@id": "http://reg.genome.network/allele/PA347318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NM_001127899.4:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121371.1:p.Arg417Ter",
        "hgvsWellDefined": "NP_001121371.1:p.Arg417_Asn816delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676953"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826601509",
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002023",
      "geneNCBI_id": 1184,
      "geneSymbol": "CLCN5",
      "hgvs": [
        "NM_001282163.2:c.1099C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269092.1:p.Arg367Ter",
        "hgvsWellDefined": "NP_001269092.1:p.Arg367_Asn766delinsLysThrThrGlnLeuGlyLysTyrProValIleGluValLeuValValThrAlaIleThrAlaIleLeuAlaPheProAsnGluTyrThrArgMetSerThrSerGluLeuIleSerGluLeuPheAsnAspCysGlyLeuLeuAspSerSerLysLeuCysAspTyrGluAsnArgPheAsnThrSerLysGlyGlyGluLeuProAspArgProAlaGlyValGlyValTyrSerAlaMetTrpGlnLeuAlaLeuThrLeuIleLeuLysIleValIleThrIlePheThrPheGlyMetLysIleProSerGlyLeuPheIleProSerMetAlaValGlyAlaIleAlaGlyArgLeuLeuGlyValGlyMetGluGlnLeuAlaTyrTyrHisGlnGluTrpThrValPheAsnSerTrpCysSerGlnGlyAlaAspCysIleThrProGlyLeuTyrAlaMetValGlyAlaAlaAlaCysLeuGlyGlyValThrArgMetThrValSerLeuValValIleMetPheGluLeuThrGlyGlyLeuGluTyrIleValProLeuMetAlaAlaAlaMetThrSerLysTrpValAlaAspAlaLeuGlyArgGluGlyIleTyrAspAlaHisIleArgLeuAsnGlyTyrProPheLeuGluAlaLysGluGluPheAlaHisLysThrLeuAlaMetAspValMetLysProArgArgAsnAspProLeuLeuThrValLeuThrGlnAspSerMetThrValGluAspValGluThrIleIleSerGluThrThrTyrSerGlyPheProValValValSerArgGluSerGlnArgLeuValGlyPheValLeuArgArgAspLeuIleIleSerIleGluAsnAlaArgLysLysGlnAspGlyValValSerThrSerIleIleTyrPheThrGluHisSerProProLeuProProTyrThrProProThrLeuLysLeuArgAsnIleLeuAspLeuSerProPheThrValThrAspLeuThrProMetGluIleValValAspIlePheArgLysLeuGlyLeuArgGlnCysLeuValThrHisAsnGlyArgLeuLeuGlyIleIleThrLysLysAspValLeuLysHisIleAlaGlnMetAlaAsnGlnAspProAspSerIleLeuPheAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715746"
    }
  ],
  "type": "nucleotide"
}