{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA118910",
  "communityStandardTitle": [
    "NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22629[alleleid]",
        "alleleId": 22629,
        "preferredName": "NM_004070.4(CLCNKA):c.778C>T (p.Gln260Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7590",
        "RCV": [
          "RCV000008028"
        ],
        "variationId": 7590
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-16353927-C-T",
        "id": "1-16353927-C-T",
        "variant": "1:16353927 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16353927C>T?assembly=hg19",
        "id": "chr1:g.16353927C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.16027432C>T?assembly=hg38",
        "id": "chr1:g.16027432C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909138",
        "rs": 121909138
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16353927-C-T?dataset=gnomad_r2_1",
        "id": "1-16353927-C-T",
        "variant": "1:16353927 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16027432-C-T?dataset=gnomad_r3",
        "id": "1-16027432-C-T",
        "variant": "1:16027432 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-16027432-C-T?dataset=gnomad_r4",
        "id": "1-16027432-C-T",
        "variant": "1:16027432 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16027432,
          "referenceAllele": "C",
          "start": 16027431
        }
      ],
      "hgvs": [
        "NC_000001.11:g.16027432C>T",
        "CM000663.2:g.16027432C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16353927,
          "referenceAllele": "C",
          "start": 16353926
        }
      ],
      "hgvs": [
        "NC_000001.10:g.16353927C>T",
        "CM000663.1:g.16353927C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 16226514,
          "referenceAllele": "C",
          "start": 16226513
        }
      ],
      "hgvs": [
        "NC_000001.9:g.16226514C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10442,
          "referenceAllele": "C",
          "start": 10441
        }
      ],
      "hgvs": [
        "NG_009359.1:g.10442C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001567"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "ENST00000331433.5:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332771.4:p.Gln260Ter",
        "hgvsWellDefined": "ENSP00000332771.4:p.Gln260_Lys687delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747154",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331433.5:c.778C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004070.4:c.778C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332771.4:p.Gln260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004061.3:p.Gln260Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 797,
          "referenceAllele": "C",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "ENST00000331433.4:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000332771.4:p.Gln260Ter",
        "hgvsWellDefined": "ENSP00000332771.4:p.Gln260_Lys687delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 906,
          "referenceAllele": "C",
          "start": 905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "ENST00000375692.5:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364844.1:p.Gln260Ter",
        "hgvsWellDefined": "ENSP00000364844.1:p.Gln260_Lys686delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270821"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "ENST00000439316.6:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000414445.2:p.Gln217Ter",
        "hgvsWellDefined": "ENSP00000414445.2:p.Gln217_Lys644delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "ENST00000464764.5:n.1341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 194,
          "referenceAllele": "C",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "ENST00000491433.1:n.194C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825419179",
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "NM_001042704.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036169.1:p.Gln260Ter",
        "hgvsWellDefined": "NP_001036169.1:p.Gln260_Lys686delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009804"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826433725",
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "C",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "NM_001257139.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244068.1:p.Gln217Ter",
        "hgvsWellDefined": "NP_001244068.1:p.Gln217_Lys644delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019546"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118911",
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "NM_004070.3:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004061.3:p.Gln260Ter",
        "hgvsWellDefined": "NP_004061.3:p.Gln260_Lys687delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029260"
    },
    {
      "@id": "http://reg.genome.network/allele/PA118911",
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "NM_004070.4:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004061.3:p.Gln260Ter",
        "hgvsWellDefined": "NP_004061.3:p.Gln260_Lys687delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331433.5:c.778C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004070.4:c.778C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332771.4:p.Gln260Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004061.3:p.Gln260Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825419179",
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "NM_001042704.2:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001036169.1:p.Gln260Ter",
        "hgvsWellDefined": "NP_001036169.1:p.Gln260_Lys686delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676079"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826433725",
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002026",
      "geneNCBI_id": 1187,
      "geneSymbol": "CLCNKA",
      "hgvs": [
        "NM_001257139.2:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244068.1:p.Gln217Ter",
        "hgvsWellDefined": "NP_001244068.1:p.Gln217_Lys644delinsGluThrIleThrSerLeuTyrLysThrSerPheArgValAspValProPheAspLeuProGluIlePhePhePheValAlaLeuGlyGlyIleCysGlyValLeuSerCysAlaTyrLeuPheCysGlnArgThrPheLeuSerPheIleLysThrAsnArgTyrSerSerLysLeuLeuAlaThrSerLysProValTyrSerAlaLeuAlaThrLeuLeuLeuAlaSerIleThrTyrProProGlyValGlyHisPheLeuAlaSerArgLeuSerMetLysGlnHisLeuAspSerLeuPheAspAsnHisSerTrpAlaLeuMetThrGlnAsnSerSerProProTrpProGluGluLeuAspProGlnHisLeuTrpTrpGluTrpTyrHisProArgPheThrIlePheGlyThrLeuAlaPhePheLeuValMetLysPheTrpMetLeuIleLeuAlaThrThrIleProMetProAlaGlyTyrPheMetProIlePheIleLeuGlyAlaAlaIleGlyArgLeuLeuGlyGluAlaLeuAlaValAlaPheProGluGlyIleValThrGlyGlyValThrAsnProIleMetProGlyGlyTyrAlaLeuAlaGlyAlaAlaAlaPheSerGlyAlaValThrHisThrIleSerThrAlaLeuLeuAlaPheGluLeuThrGlyGlnIleValHisAlaLeuProValLeuMetAlaValLeuAlaAlaAsnAlaIleAlaGlnSerCysGlnProSerPheTyrAspGlyThrIleIleValLysLysLeuProTyrLeuProArgIleLeuGlyArgAsnIleGlySerHisHisValArgValGluHisPheMetAsnHisSerIleThrThrLeuAlaLysAspThrProLeuGluGluValValLysValValThrSerThrAspValThrGluTyrProLeuValGluSerThrGluSerGlnIleLeuValGlyIleValGlnArgAlaGlnLeuValGlnAlaLeuGlnAlaGluProProSerArgAlaProGlyHisGlnGlnCysLeuGlnAspIleLeuAlaArgGlyCysProThrGluProValThrLeuThrLeuPheSerGluThrThrLeuHisGlnAlaGlnAsnLeuPheLysLeuLeuAsnLeuGlnSerLeuPheValThrSerArgGlyArgAlaValGlyCysValSerTrpValGluMetLysLysAlaIleSerAsnLeuThrAsnProProAlaProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680694"
    }
  ],
  "type": "nucleotide"
}