{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394189368",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.1194G>A (p.Trp398Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1988843[alleleid]",
        "alleleId": 1988843,
        "preferredName": "NM_001287.6(CLCN7):c.1194G>A (p.Trp398Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1932544",
        "RCV": [
          "RCV002622619"
        ],
        "variationId": 1932544
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1503855C>T?assembly=hg19",
        "id": "chr16:g.1503855C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1453854C>T?assembly=hg38",
        "id": "chr16:g.1453854C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/757198557",
        "rs": 757198557
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 1453854,
          "referenceAllele": "C",
          "start": 1453853
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1453854C>T",
        "CM000678.2:g.1453854C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 1503855,
          "referenceAllele": "C",
          "start": 1503854
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1503855C>T",
        "CM000678.1:g.1503855C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 1443856,
          "referenceAllele": "C",
          "start": 1443855
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1443856C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 26231,
          "referenceAllele": "G",
          "start": 26230
        }
      ],
      "hgvs": [
        "NG_007567.1:g.26231G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1258,
          "referenceAllele": "G",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:p.Trp398Ter",
        "hgvsWellDefined": "ENSP00000514703.1:p.Trp398_Cys808delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnGlyProTrpGluAlaProLeuAlaTrpLeuGlyTrpValTrpGlyArgHisArgProLeuThrGlyArgGlnArgGlnLeuGlnCysProCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1251,
          "referenceAllele": "G",
          "start": 1250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:p.Trp398Ter",
        "hgvsWellDefined": "ENSP00000514704.1:p.Trp398_Gly546delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnAspArgValValSerArgLeuMetLeuAlaArgHisArgValHisGlyLeuSerArgArgHisGlnLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaAlaGlyLeuCysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699950.1:n.1146G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910821"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Trp398Ter",
        "hgvsWellDefined": "ENSP00000372193.4:p.Trp398_Thr805delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Trp398Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Trp398Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1205,
          "referenceAllele": "G",
          "start": 1204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.1122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:p.Trp374Ter",
        "hgvsWellDefined": "ENSP00000262318.8:p.Trp374_Ala901delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnAlaCysValAlaProThrGlyValGlnAlaValProGlyProGlyProAlaAlaProGlyGlyGlyGlyGlnProGlnSerGlyCysArgValGlyAspGlnGluGlyProArgGlnValProProGlyLysGluArgLeuGlyGlyAlaLeuAlaGlyProAspValArgProSerProAlaHisAsnGlyHisTrpArgTrpHisProGlyProSerAlaPheProProGlyValThrGlyPheSerAlaGlnThrMetLeuProSerSerGlyAsnGlyGluHisProAlaAlaGlyArgAlaGlyGlyArgArgGlyThrAspProLeuAlaGlyLeuThrLeuLeuTrpAlaValValSerProLeuGlyAlaSerLeuArgArgProSerLeuHisSerProArgLeuGlyPhePheThrSerArgAspGlnLeuCysValCysAspLeuProThrGlyLeuSerAlaSerTrpGluProAlaAlaGlyProAlaProAlaCysLeuCysProCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Trp398Ter",
        "hgvsWellDefined": "ENSP00000372193.4:p.Trp398_Thr805delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.1122G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:p.Trp374Ter",
        "hgvsWellDefined": "ENSP00000410907.1:p.Trp374_Thr781delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571258",
      "coordinates": [
        {
          "allele": "A",
          "end": 1232,
          "referenceAllele": "G",
          "start": 1231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.1122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Trp374Ter",
        "hgvsWellDefined": "NP_001107803.1:p.Trp374_Thr781delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580185423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1304,
          "referenceAllele": "G",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Trp398Ter",
        "hgvsWellDefined": "NP_001278.1:p.Trp398_Thr805delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1386,
          "referenceAllele": "G",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "XM_011522354.1:c.1020G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520656.1:p.Trp340Ter",
        "hgvsWellDefined": "XP_011520656.1:p.Trp340_Thr747delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580185423",
      "coordinates": [
        {
          "allele": "A",
          "end": 1248,
          "referenceAllele": "G",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.1194G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Trp398Ter",
        "hgvsWellDefined": "NP_001278.1:p.Trp398_Thr805delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.1194G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.1194G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Trp398Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Trp398Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571258",
      "coordinates": [
        {
          "allele": "A",
          "end": 1176,
          "referenceAllele": "G",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.1122G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Trp374Ter",
        "hgvsWellDefined": "NP_001107803.1:p.Trp374_Thr781delinsLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}