{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8974528",
  "communityStandardTitle": [
    "NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=6446294",
        "active": true,
        "id": "COSM6446294"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1691187[alleleid]",
        "alleleId": 1691187,
        "preferredName": "NM_001374385.1(ATP8B1):c.1573C>T (p.Arg525Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1698811",
        "RCV": [
          "RCV002272668",
          "RCV003560909"
        ],
        "variationId": 1698811
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-55351325-G-A",
        "id": "18-55351325-G-A",
        "variant": "18:55351325 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.55351325G>A?assembly=hg19",
        "id": "chr18:g.55351325G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.57684093G>A?assembly=hg38",
        "id": "chr18:g.57684093G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/770257115",
        "rs": 770257115
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-55351325-G-A?dataset=gnomad_r2_1",
        "id": "18-55351325-G-A",
        "variant": "18:55351325 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57684093-G-A?dataset=gnomad_r4",
        "id": "18-57684093-G-A",
        "variant": "18:57684093 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 57684093,
          "referenceAllele": "G",
          "start": 57684092
        }
      ],
      "hgvs": [
        "NC_000018.10:g.57684093G>A",
        "CM000680.2:g.57684093G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 55351325,
          "referenceAllele": "G",
          "start": 55351324
        }
      ],
      "hgvs": [
        "NC_000018.9:g.55351325G>A",
        "CM000680.1:g.55351325G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 53502323,
          "referenceAllele": "G",
          "start": 53502322
        }
      ],
      "hgvs": [
        "NC_000018.8:g.53502323G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124003,
          "referenceAllele": "C",
          "start": 124002
        }
      ],
      "hgvs": [
        "NG_007148.2:g.124003C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 124730,
          "referenceAllele": "C",
          "start": 124729
        }
      ],
      "hgvs": [
        "NG_007148.3:g.124730C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1655,
          "referenceAllele": "C",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000642462.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494712.1:p.Arg525Ter",
        "hgvsWellDefined": "ENSP00000494712.1:p.Arg525_Glu946delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysIleSerSerSerSerLeuMetTyrThrLysAsnIleProThrLeuSerSerSerThrGlyValSerCysMetThrCysProHisTrpArgTrpAsnLysTrpThrArgArgAsnAlaSerCysHisValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648039.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497863.1:p.Arg525Ter",
        "hgvsWellDefined": "ENSP00000497863.1:p.Arg525_Glu946delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysIleSerSerSerSerLeuMetTyrThrLysAsnIleProThrLeuSerSerSerThrGlyValSerCysMetThrCysProHisTrpArgTrpAsnLysTrpThrArgArgAsnAlaSerCysHisValGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1406,
          "referenceAllele": "C",
          "start": 1405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648467.1:c.1406C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648908.2:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497896.1:p.Arg525Ter",
        "hgvsWellDefined": "ENSP00000497896.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770250",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.1573C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.1573C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Arg525Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Arg525Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1573,
          "referenceAllele": "C",
          "start": 1572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000283684.8:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283684.4:p.Arg525Ter",
        "hgvsWellDefined": "ENSP00000283684.4:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000536015.5:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445359.1:p.Arg525Ter",
        "hgvsWellDefined": "ENSP00000445359.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.4:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.1:p.Arg525Ter",
        "hgvsWellDefined": "NP_005594.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuThrValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2423,
          "referenceAllele": "C",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.2:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Arg525Ter",
        "hgvsWellDefined": "XP_006722544.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526020.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524322.1:p.Arg525Ter",
        "hgvsWellDefined": "XP_011524322.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1617,
          "referenceAllele": "C",
          "start": 1616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526021.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524323.1:p.Arg525Ter",
        "hgvsWellDefined": "XP_011524323.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1656,
          "referenceAllele": "C",
          "start": 1655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526022.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524324.1:p.Arg525Ter",
        "hgvsWellDefined": "XP_011524324.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2309,
          "referenceAllele": "C",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.1:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Arg487Ter",
        "hgvsWellDefined": "XP_011524325.1:p.Arg487_Ser1213delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1093,
          "referenceAllele": "C",
          "start": 1092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526024.1:c.853C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524326.1:p.Arg285Ter",
        "hgvsWellDefined": "XP_011524326.1:p.Arg285_Ser1011delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580333903",
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.6:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.2:p.Arg525Ter",
        "hgvsWellDefined": "NP_005594.2:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2423,
          "referenceAllele": "C",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.4:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Arg525Ter",
        "hgvsWellDefined": "XP_006722544.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2309,
          "referenceAllele": "C",
          "start": 2308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.3:c.1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Arg487Ter",
        "hgvsWellDefined": "XP_011524325.1:p.Arg487_Ser1213delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828509515",
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374385.1:c.1573C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361314.1:p.Arg525Ter",
        "hgvsWellDefined": "NP_001361314.1:p.Arg525_Ser1251delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.1573C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.1573C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Arg525Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Arg525Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828510014",
      "coordinates": [
        {
          "allele": "T",
          "end": 1818,
          "referenceAllele": "C",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374386.1:c.1423C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361315.1:p.Arg475Ter",
        "hgvsWellDefined": "NP_001361315.1:p.Arg475_Ser1201delinsGlnPhePhePheLeuLeuAlaValCysHisThrValMetValAspArgThrAspGlyGlnLeuAsnTyrGlnAlaAlaSerProAspGluGlyAlaLeuValAsnAlaAlaArgAsnPheGlyPheAlaPheLeuAlaArgThrGlnAsnThrIleThrIleSerGluLeuGlyThrGluArgThrTyrAsnValLeuAlaIleLeuAspPheAsnSerAspArgLysArgMetSerIleIleValArgThrProGluGlyAsnIleLysLeuTyrCysLysGlyAlaAspThrValIleTyrGluArgLeuHisArgMetAsnProThrLysGlnGluThrGlnAspAlaLeuAspIlePheAlaAsnGluThrLeuArgThrLeuCysLeuCysTyrLysGluIleGluGluLysGluPheThrGluTrpAsnLysLysPheMetAlaAlaSerValAlaSerThrAsnArgAspGluAlaLeuAspLysValTyrGluGluIleGluLysAspLeuIleLeuLeuGlyAlaThrAlaIleGluAspLysLeuGlnAspGlyValProGluThrIleSerLysLeuAlaLysAlaAspIleLysIleTrpValLeuThrGlyAspLysLysGluThrAlaGluAsnIleGlyPheAlaCysGluLeuLeuThrGluAspThrThrIleCysTyrGlyGluAspIleAsnSerLeuLeuHisAlaArgMetGluAsnGlnArgAsnArgGlyGlyValTyrAlaLysPheAlaProProValGlnGluSerPhePheProProGlyGlyAsnArgAlaLeuIleIleThrGlySerTrpLeuAsnGluIleLeuLeuGluLysLysThrLysArgAsnLysIleLeuLysLeuLysPheProArgThrGluGluGluArgArgMetArgThrGlnSerLysArgArgLeuGluAlaLysLysGluGlnArgGlnLysAsnPheValAspLeuAlaCysGluCysSerAlaValIleCysCysArgValThrProLysGlnLysAlaMetValValAspLeuValLysArgTyrLysLysAlaIleThrLeuAlaIleGlyAspGlyAlaAsnAspValAsnMetIleLysThrAlaHisIleGlyValGlyIleSerGlyGlnGluGlyMetGlnAlaValMetSerSerAspTyrSerPheAlaGlnPheArgTyrLeuGlnArgLeuLeuLeuValHisGlyArgTrpSerTyrIleArgMetCysLysPheLeuArgTyrPhePheTyrLysAsnPheAlaPheThrLeuValHisPheTrpTyrSerPhePheAsnGlyTyrSerAlaGlnThrAlaTyrGluAspTrpPheIleThrLeuTyrAsnValLeuTyrThrSerLeuProValLeuLeuMetGlyLeuLeuAspGlnAspValSerAspLysLeuSerLeuArgPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693252"
    }
  ],
  "type": "nucleotide"
}