{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16621861",
  "communityStandardTitle": [
    "NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1448834",
        "active": true,
        "id": "COSM1448834"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413762[alleleid]",
        "alleleId": 413762,
        "preferredName": "NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425428",
        "RCV": [
          "RCV000701179",
          "RCV001030775",
          "RCV000488375"
        ],
        "variationId": 425428
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.143028357C>T?assembly=hg19",
        "id": "chr7:g.143028357C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.143331264C>T?assembly=hg38",
        "id": "chr7:g.143331264C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/759761559",
        "rs": 759761559
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-143331264-C-T?dataset=gnomad_r4",
        "id": "7-143331264-C-T",
        "variant": "7:143331264 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 143331264,
          "referenceAllele": "C",
          "start": 143331263
        }
      ],
      "hgvs": [
        "NC_000007.14:g.143331264C>T",
        "CM000669.2:g.143331264C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 143028357,
          "referenceAllele": "C",
          "start": 143028356
        }
      ],
      "hgvs": [
        "NC_000007.13:g.143028357C>T",
        "CM000669.1:g.143028357C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 142738479,
          "referenceAllele": "C",
          "start": 142738478
        }
      ],
      "hgvs": [
        "NC_000007.12:g.142738479C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20139,
          "referenceAllele": "C",
          "start": 20138
        }
      ],
      "hgvs": [
        "NG_009815.1:g.20139C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001652"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20139,
          "referenceAllele": "C",
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        }
      ],
      "hgvs": [
        "NG_009815.2:g.20139C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706098"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000650516.2:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498052.2:p.Arg338Ter",
        "hgvsWellDefined": "ENSP00000498052.2:p.Arg338_Leu988delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.7:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Arg338Ter",
        "hgvsWellDefined": "ENSP00000339867.2:p.Arg338_Leu988delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748129",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.1012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.1012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Arg338Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Arg338Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000432192.6:c.836C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "ENST00000343257.6:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339867.2:p.Arg338Ter",
        "hgvsWellDefined": "ENSP00000339867.2:p.Arg338_Leu988delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261727"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645393905",
      "coordinates": [
        {
          "allele": "T",
          "end": 1099,
          "referenceAllele": "C",
          "start": 1098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.2:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.2:p.Arg338Ter",
        "hgvsWellDefined": "NP_000074.2:p.Arg338_Leu988delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "C",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.1:n.1102C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1053,
          "referenceAllele": "C",
          "start": 1052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_011515781.1:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514083.1:p.Arg338Ter",
        "hgvsWellDefined": "XP_011514083.1:p.Arg338_Leu996delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluValSerCysTrpTrpGlyHisMetLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011739.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867228.1:p.Arg188Ter",
        "hgvsWellDefined": "XP_016867228.1:p.Arg188_Leu846delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluValSerCysTrpTrpGlyHisMetLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565512"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 800,
          "referenceAllele": "C",
          "start": 799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "XM_017011740.1:c.562C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867229.1:p.Arg188Ter",
        "hgvsWellDefined": "XP_016867229.1:p.Arg188_Leu838delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565513"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953638",
      "coordinates": [
        {
          "allele": "T",
          "end": 1114,
          "referenceAllele": "C",
          "start": 1113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NM_000083.3:c.1012C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000074.3:p.Arg338Ter",
        "hgvsWellDefined": "NP_000074.3:p.Arg338_Leu988delinsMetAspPheProPheAspLeuLysGluLeuProAlaPheAlaAlaIleGlyIleCysCysGlyLeuLeuGlyAlaValPheValTyrLeuHisArgGlnValMetLeuGlyValArgLysHisLysAlaLeuSerGlnPheLeuAlaLysHisArgLeuLeuTyrProGlyIleValThrPheValIleAlaSerPheThrPheProProGlyMetGlyGlnPheMetAlaGlyGluLeuMetProArgGluAlaIleSerThrLeuPheAspAsnAsnThrTrpValLysHisAlaGlyAspProGluSerLeuGlyGlnSerAlaValTrpIleHisProArgValAsnValValIleIleIlePheLeuPhePheValMetLysPheTrpMetSerIleValAlaThrThrMetProIleProCysGlyGlyPheMetProValPheValLeuGlyAlaAlaPheGlyArgLeuValGlyGluIleMetAlaMetLeuPheProAspGlyIleLeuPheAspAspIleIleTyrLysIleLeuProGlyGlyTyrAlaValIleGlyAlaAlaAlaLeuThrGlyAlaValSerHisThrValSerThrAlaValIleCysPheGluLeuThrGlyGlnIleAlaHisIleLeuProMetMetValAlaValIleLeuAlaAsnMetValAlaGlnSerLeuGlnProSerLeuTyrAspSerIleIleGlnValLysLysLeuProTyrLeuProAspLeuGlyTrpAsnGlnLeuSerLysTyrThrIlePheValGluAspIleMetValArgAspValLysPheValSerAlaSerTyrThrTyrGlyGluLeuArgThrLeuLeuGlnThrThrThrValLysThrLeuProLeuValAspSerLysAspSerMetIleLeuLeuGlySerValGluArgSerGluLeuGlnAlaLeuLeuGlnArgHisLeuCysProGluArgArgLeuArgAlaAlaGlnGluMetAlaArgLysLeuSerGluLeuProTyrAspGlyLysAlaArgLeuAlaGlyGluGlyLeuProGlyAlaProProGlyArgProGluSerPheAlaPheValAspGluAspGluAspGluAspLeuSerGlyLysSerGluLeuProProSerLeuAlaLeuHisProSerThrThrAlaProLeuSerProGluGluProAsnGlyProLeuProGlyHisLysGlnGlnProGluAlaProGluProAlaGlyGlnArgProSerIlePheGlnSerLeuLeuHisCysLeuLeuGlyArgAlaArgProThrLysLysLysThrThrGlnAspSerThrAspLeuValAspAsnMetSerProGluGluIleGluAlaTrpGluGlnGluGlnLeuSerGlnProValCysPheAspSerCysCysIleAspGlnSerProPheGlnLeuValGluGlnThrThrLeuHisLysThrHisThrLeuPheSerLeuLeuGlyLeuHisLeuAlaTyrValThrSerMetGlyLysLeuArgGlyValLeuAlaLeuGluGluLeuGlnLysAlaIleGluGlyHisThrLysSerGlyValGlnLeuArgProProLeuAlaSerPheArgAsnThrThrSerThrArgLysSerThrGlyAlaProProSerSerAlaGluAsnTrpAsnLeuProGluAspArgProGlyAlaThrGlyThrGlyAspValIleAlaAlaSerProGluThrProValProSerProSerProGluProProLeuSerLeuAlaProGlyLysValGluGlyGluLeuGluGluLeuGluLeuValGluSerProGlyLeuGluGluGluLeuAlaAspIleLeuGlnGlyProSerLeuArgSerThrAspGluGluAspGluAspGluLeuIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000343257.7:c.1012C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000083.3:c.1012C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339867.2:p.Arg338Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000074.3:p.Arg338Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "referenceAllele": "C",
          "start": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002019",
      "geneNCBI_id": 1180,
      "geneSymbol": "CLCN1",
      "hgvs": [
        "NR_046453.2:n.1117C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702503"
    }
  ],
  "type": "nucleotide"
}