{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA345468",
  "communityStandardTitle": [
    "NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=989164",
        "active": true,
        "id": "COSM989164"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=131915[alleleid]",
        "alleleId": 131915,
        "preferredName": "NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/126382",
        "RCV": [
          "RCV000114321",
          "RCV000624843",
          "RCV000726821",
          "RCV002509220",
          "RCV003474707"
        ],
        "variationId": 126382
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.55336654C>A?assembly=hg19",
        "id": "chr18:g.55336654C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.57669422C>A?assembly=hg38",
        "id": "chr18:g.57669422C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/515726137",
        "rs": 515726137
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-55336654-C-A?dataset=gnomad_r2_1",
        "id": "18-55336654-C-A",
        "variant": "18:55336654 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57669422-C-A?dataset=gnomad_r3",
        "id": "18-57669422-C-A",
        "variant": "18:57669422 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57669422-C-A?dataset=gnomad_r4",
        "id": "18-57669422-C-A",
        "variant": "18:57669422 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 57669422,
          "referenceAllele": "C",
          "start": 57669421
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      ],
      "hgvs": [
        "NC_000018.10:g.57669422C>A",
        "CM000680.2:g.57669422C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 55336654,
          "referenceAllele": "C",
          "start": 55336653
        }
      ],
      "hgvs": [
        "NC_000018.9:g.55336654C>A",
        "CM000680.1:g.55336654C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 53487652,
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          "start": 53487651
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 138674,
          "referenceAllele": "G",
          "start": 138673
        }
      ],
      "hgvs": [
        "NG_007148.2:g.138674G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139401,
          "referenceAllele": "G",
          "start": 139400
        }
      ],
      "hgvs": [
        "NG_007148.3:g.139401G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2075,
          "referenceAllele": "G",
          "start": 2074
        }
      ],
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      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000642462.1:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494712.1:p.Glu665Ter",
        "hgvsWellDefined": "ENSP00000494712.1:p.Glu665_Glu946delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysIleSerSerSerSerLeuMetTyrThrLysAsnIleProThrLeuSerSerSerThrGlyValSerCysMetThrCysProHisTrpArgTrpAsnLysTrpThrArgArgAsnAlaSerCysHisValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2088,
          "referenceAllele": "G",
          "start": 2087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648039.1:c.1993G>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000497863.1:p.Glu665Ter",
        "hgvsWellDefined": "ENSP00000497863.1:p.Glu665_Glu946delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysIleSerSerSerSerLeuMetTyrThrLysAsnIleProThrLeuSerSerSerThrGlyValSerCysMetThrCysProHisTrpArgTrpAsnLysTrpThrArgArgAsnAlaSerCysHisValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2336,
          "referenceAllele": "G",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648908.2:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497896.1:p.Glu665Ter",
        "hgvsWellDefined": "ENSP00000497896.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770250",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.1993G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.1993G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Glu665Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Glu665Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "G",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000283684.8:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283684.4:p.Glu665Ter",
        "hgvsWellDefined": "ENSP00000283684.4:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "G",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000536015.5:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445359.1:p.Glu665Ter",
        "hgvsWellDefined": "ENSP00000445359.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360049"
    },
    {
      "@id": "http://reg.genome.network/allele/PA345469",
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "G",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.4:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.1:p.Glu665Ter",
        "hgvsWellDefined": "NP_005594.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuThrValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2843,
          "referenceAllele": "G",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.2:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Glu665Ter",
        "hgvsWellDefined": "XP_006722544.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2058,
          "referenceAllele": "G",
          "start": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526020.1:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524322.1:p.Glu665Ter",
        "hgvsWellDefined": "XP_011524322.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "G",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526021.1:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524323.1:p.Glu665Ter",
        "hgvsWellDefined": "XP_011524323.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2076,
          "referenceAllele": "G",
          "start": 2075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526022.1:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524324.1:p.Glu665Ter",
        "hgvsWellDefined": "XP_011524324.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2729,
          "referenceAllele": "G",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.1:c.1879G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Glu627Ter",
        "hgvsWellDefined": "XP_011524325.1:p.Glu627_Ser1213delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526024.1:c.1273G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524326.1:p.Glu425Ter",
        "hgvsWellDefined": "XP_011524326.1:p.Glu425_Ser1011delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891865586",
      "coordinates": [
        {
          "allele": "T",
          "end": 2333,
          "referenceAllele": "G",
          "start": 2332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.6:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.2:p.Glu665Ter",
        "hgvsWellDefined": "NP_005594.2:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2843,
          "referenceAllele": "G",
          "start": 2842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.4:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Glu665Ter",
        "hgvsWellDefined": "XP_006722544.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2729,
          "referenceAllele": "G",
          "start": 2728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.3:c.1879G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Glu627Ter",
        "hgvsWellDefined": "XP_011524325.1:p.Glu627_Ser1213delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828509566",
      "coordinates": [
        {
          "allele": "T",
          "end": 2336,
          "referenceAllele": "G",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374385.1:c.1993G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361314.1:p.Glu665Ter",
        "hgvsWellDefined": "NP_001361314.1:p.Glu665_Ser1251delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.1993G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.1993G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Glu665Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Glu665Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828510066",
      "coordinates": [
        {
          "allele": "T",
          "end": 2238,
          "referenceAllele": "G",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374386.1:c.1843G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361315.1:p.Glu615Ter",
        "hgvsWellDefined": "NP_001361315.1:p.Glu615_Ser1201delinsPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693252"
    }
  ],
  "type": "nucleotide"
}