{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA276630015",
  "communityStandardTitle": [
    "NM_001287.6(CLCN7):c.139C>T (p.Gln47Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=860207[alleleid]",
        "alleleId": 860207,
        "preferredName": "NM_001287.6(CLCN7):c.139C>T (p.Gln47Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/871455",
        "RCV": [
          "RCV001091434"
        ],
        "variationId": 871455
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1524837G>A?assembly=hg19",
        "id": "chr16:g.1524837G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.1474836G>A?assembly=hg38",
        "id": "chr16:g.1474836G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/948980711",
        "rs": 948980711
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1474836-G-A?dataset=gnomad_r3",
        "id": "16-1474836-G-A",
        "variant": "16:1474836 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-1474836-G-A?dataset=gnomad_r4",
        "id": "16-1474836-G-A",
        "variant": "16:1474836 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1474836,
          "referenceAllele": "G",
          "start": 1474835
        }
      ],
      "hgvs": [
        "NC_000016.10:g.1474836G>A",
        "CM000678.2:g.1474836G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1524837,
          "referenceAllele": "G",
          "start": 1524836
        }
      ],
      "hgvs": [
        "NC_000016.9:g.1524837G>A",
        "CM000678.1:g.1524837G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 1464838,
          "referenceAllele": "G",
          "start": 1464837
        }
      ],
      "hgvs": [
        "NC_000016.8:g.1464838G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5249,
          "referenceAllele": "C",
          "start": 5248
        }
      ],
      "hgvs": [
        "NG_007567.1:g.5249C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000653"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 203,
          "referenceAllele": "C",
          "start": 202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699947.1:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514703.1:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000514703.1:p.Gln47_Cys808delinsSerProArgSerAlaLeuPheArgValGlyHisMetSerSerValGluLeuAspAspGluLeuLeuAspProAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnGlyProTrpGluAlaProLeuAlaTrpLeuGlyTrpValTrpGlyArgHisArgProLeuThrGlyArgGlnArgGlnLeuGlnCysProCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910819"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699948.1:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514704.1:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000514704.1:p.Gln47_Gly546delinsSerProArgSerAlaLeuPheArgValGlyHisMetSerSerValGluLeuAspAspGluLeuLeuAspProAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnAspArgValValSerArgLeuMetLeuAlaArgHisArgValHisGlyLeuSerArgArgHisGlnLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaAlaGlyLeuCysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910820"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 91,
          "referenceAllele": "C",
          "start": 90
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000699950.1:n.91C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.9:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000372193.4:p.Gln47_Thr805delinsSerProArgSerAlaLeuPheArgValGlyHisMetSerSerValGluLeuAspAspGluLeuLeuAspProAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752681",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Gln47Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Gln47Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 222,
          "referenceAllele": "C",
          "start": 221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000262318.12:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262318.8:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000262318.8:p.Gln47_Ala901delinsAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnAlaCysValAlaProThrGlyValGlnAlaValProGlyProGlyProAlaAlaProGlyGlyGlyGlyGlnProGlnSerGlyCysArgValGlyAspGlnGluGlyProArgGlnValProProGlyLysGluArgLeuGlyGlyAlaLeuAlaGlyProAspValArgProSerProAlaHisAsnGlyHisTrpArgTrpHisProGlyProSerAlaPheProProGlyValThrGlyPheSerAlaGlnThrMetLeuProSerSerGlyAsnGlyGluHisProAlaAlaGlyArgAlaGlyGlyArgArgGlyThrAspProLeuAlaGlyLeuThrLeuLeuTrpAlaValValSerProLeuGlyAlaSerLeuArgArgProSerLeuHisSerProArgLeuGlyPhePheThrSerArgAspGlnLeuCysValCysAspLeuProThrGlyLeuSerAlaSerTrpGluProAlaAlaGlyProAlaProAlaCysLeuCysProCysAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 745,
          "referenceAllele": "C",
          "start": 744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000382745.8:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000372193.4:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000372193.4:p.Gln47_Thr805delinsSerProArgSerAlaLeuPheArgValGlyHisMetSerSerValGluLeuAspAspGluLeuLeuAspProAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS273840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000448525.5:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410907.1:p.Gln47Ter",
        "hgvsWellDefined": "ENSP00000410907.1:p.Gln47_Thr781delinsAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299775"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000561665.5:n.241C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 242,
          "referenceAllele": "C",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000566812.1:n.242C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "C",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "ENST00000567139.1:n.190C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS379918"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571004",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.2:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Gln47Ter",
        "hgvsWellDefined": "NP_001107803.1:p.Gln47_Thr781delinsAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011317"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694818",
      "coordinates": [
        {
          "allele": "T",
          "end": 249,
          "referenceAllele": "C",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.5:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Gln47Ter",
        "hgvsWellDefined": "NP_001278.1:p.Gln47_Thr805delinsSerProArgSerAlaLeuPheArgValGlyHisMetSerSerValGluLeuAspAspGluLeuLeuAspProAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139694818",
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001287.6:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278.1:p.Gln47Ter",
        "hgvsWellDefined": "NP_001278.1:p.Gln47_Thr805delinsSerProArgSerAlaLeuPheArgValGlyHisMetSerSerValGluLeuAspAspGluLeuLeuAspProAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664229",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000382745.9:c.139C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001287.6:c.139C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000372193.4:p.Gln47Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001278.1:p.Gln47Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825571004",
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "C",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002025",
      "geneNCBI_id": 1186,
      "geneSymbol": "CLCN7",
      "hgvs": [
        "NM_001114331.3:c.139C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107803.1:p.Gln47Ter",
        "hgvsWellDefined": "NP_001107803.1:p.Gln47_Thr781delinsAspMetAspProProHisProPheProLysGluIleProHisAsnGluLysLeuLeuSerLeuLysTyrGluSerLeuAspTyrAspAsnSerGluAsnGlnLeuPheLeuGluGluGluArgArgIleAsnHisThrAlaPheArgThrValGluIleLysArgTrpValIleCysAlaLeuIleGlyIleLeuThrGlyLeuValAlaCysPheIleAspIleValValGluAsnLeuAlaGlyLeuLysTyrArgValIleLysGlyAsnIleAspLysPheThrGluLysGlyGlyLeuSerPheSerLeuLeuLeuTrpAlaThrLeuAsnAlaAlaPheValLeuValGlySerValIleValAlaPheIleGluProValAlaAlaGlySerGlyIleProGlnIleLysCysPheLeuAsnGlyValLysIleProHisValValArgLeuLysThrLeuValIleLysValSerGlyValIleLeuSerValValGlyGlyLeuAlaValGlyLysGluGlyProMetIleHisSerGlySerValIleAlaAlaGlyIleSerGlnGlyArgSerThrSerLeuLysArgAspPheLysIlePheGluTyrPheArgArgAspThrGluLysArgAspPheValSerAlaGlyAlaAlaAlaGlyValSerAlaAlaPheGlyAlaProValGlyGlyValLeuPheSerLeuGluGluGlyAlaSerPheTrpAsnGlnPheLeuThrTrpArgIlePhePheAlaSerMetIleSerThrPheThrLeuAsnPheValLeuSerIleTyrHisGlyAsnMetTrpAspLeuSerSerProGlyLeuIleAsnPheGlyArgPheAspSerGluLysMetAlaTyrThrIleHisGluIleProValPheIleAlaMetGlyValValGlyGlyValLeuGlyAlaValPheAsnAlaLeuAsnTyrTrpLeuThrMetPheArgIleArgTyrIleHisArgProCysLeuGlnValIleGluAlaValLeuValAlaAlaValThrAlaThrValAlaPheValLeuIleTyrSerSerArgAspCysGlnProLeuGlnGlyGlySerMetSerTyrProLeuGlnLeuPheCysAlaAspGlyGluTyrAsnSerMetAlaAlaAlaPhePheAsnThrProGluLysSerValValSerLeuPheHisAspProProGlySerTyrAsnProLeuThrLeuGlyLeuPheThrLeuValTyrPhePheLeuAlaCysTrpThrTyrGlyLeuThrValSerAlaGlyValPheIleProSerLeuLeuIleGlyAlaAlaTrpGlyArgLeuPheGlyIleSerLeuSerTyrLeuThrGlyAlaAlaIleTrpAlaAspProGlyLysTyrAlaLeuMetGlyAlaAlaAlaGlnLeuGlyGlyIleValArgMetThrLeuSerLeuThrValIleMetMetGluAlaThrSerAsnValThrTyrGlyPheProIleMetLeuValLeuMetThrAlaLysIleValGlyAspValPheIleGluGlyLeuTyrAspMetHisIleGlnLeuGlnSerValProPheLeuHisTrpGluAlaProValThrSerHisSerLeuThrAlaArgGluValMetSerThrProValThrCysLeuArgArgArgGluLysValGlyValIleValAspValLeuSerAspThrAlaSerAsnHisAsnGlyPheProValValGluHisAlaAspAspThrGlnProAlaArgLeuGlnGlyLeuIleLeuArgSerGlnLeuIleValLeuLeuLysHisLysValPheValGluArgSerAsnLeuGlyLeuValGlnArgArgLeuArgLeuLysAspPheArgAspAlaTyrProArgPheProProIleGlnSerIleHisValSerGlnAspGluArgGluCysThrMetAspLeuSerGluPheMetAsnProSerProTyrThrValProGlnGluAlaSerLeuProArgValPheLysLeuPheArgAlaLeuGlyLeuArgHisLeuValValValAspAsnArgAsnGlnValValGlyLeuValThrArgLysAspLeuAlaArgTyrArgLeuGlyLysArgGlyLeuGluGluLeuSerLeuAlaGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712124"
    }
  ],
  "type": "nucleotide"
}