{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8974086",
  "communityStandardTitle": [
    "NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5044679",
        "active": true,
        "id": "COSM5044679"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1291961[alleleid]",
        "alleleId": 1291961,
        "preferredName": "NM_001374385.1(ATP8B1):c.3040C>T (p.Arg1014Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301678",
        "RCV": [
          "RCV001733627",
          "RCV002508811",
          "RCV003326001"
        ],
        "variationId": 1301678
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/18-55319937-G-A",
        "id": "18-55319937-G-A",
        "variant": "18:55319937 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.55319937G>A?assembly=hg19",
        "id": "chr18:g.55319937G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.57652705G>A?assembly=hg38",
        "id": "chr18:g.57652705G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781213892",
        "rs": 781213892
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-55319937-G-A?dataset=gnomad_r2_1",
        "id": "18-55319937-G-A",
        "variant": "18:55319937 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-57652705-G-A?dataset=gnomad_r4",
        "id": "18-57652705-G-A",
        "variant": "18:57652705 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 57652705,
          "referenceAllele": "G",
          "start": 57652704
        }
      ],
      "hgvs": [
        "NC_000018.10:g.57652705G>A",
        "CM000680.2:g.57652705G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 55319937,
          "referenceAllele": "G",
          "start": 55319936
        }
      ],
      "hgvs": [
        "NC_000018.9:g.55319937G>A",
        "CM000680.1:g.55319937G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "A",
          "end": 53470935,
          "referenceAllele": "G",
          "start": 53470934
        }
      ],
      "hgvs": [
        "NC_000018.8:g.53470935G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 155391,
          "referenceAllele": "C",
          "start": 155390
        }
      ],
      "hgvs": [
        "NG_007148.2:g.155391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 156118,
          "referenceAllele": "C",
          "start": 156117
        }
      ],
      "hgvs": [
        "NG_007148.3:g.156118C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616070"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3195,
          "referenceAllele": "C",
          "start": 3194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000642462.1:c.*272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494712.1:n.*272C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3208,
          "referenceAllele": "C",
          "start": 3207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648039.1:c.*272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497863.1:n.*272C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3383,
          "referenceAllele": "C",
          "start": 3382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000648908.2:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497896.1:p.Arg1014Ter",
        "hgvsWellDefined": "ENSP00000497896.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770250",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.3040C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.3040C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Arg1014Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Arg1014Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3040,
          "referenceAllele": "C",
          "start": 3039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000283684.8:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000283684.4:p.Arg1014Ter",
        "hgvsWellDefined": "ENSP00000283684.4:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3160,
          "referenceAllele": "C",
          "start": 3159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "ENST00000536015.5:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445359.1:p.Arg1014Ter",
        "hgvsWellDefined": "ENSP00000445359.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360049"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 711,
          "endIntronDirection": "+",
          "endIntronOffset": 10653,
          "referenceAllele": "G",
          "start": 711,
          "startIntronDirection": "+",
          "startIntronOffset": 10652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056042",
      "geneNCBI_id": 100505549,
      "geneSymbol": "ATP8B1-AS1",
      "hgvs": [
        "NM_001242804.1:c.139+10653G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229733.1:n.139+10653G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3160,
          "referenceAllele": "C",
          "start": 3159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.4:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.1:p.Arg1014Ter",
        "hgvsWellDefined": "NP_005594.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuThrValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3890,
          "referenceAllele": "C",
          "start": 3889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.2:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Arg1014Ter",
        "hgvsWellDefined": "XP_006722544.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3105,
          "referenceAllele": "C",
          "start": 3104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526020.1:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524322.1:p.Arg1014Ter",
        "hgvsWellDefined": "XP_011524322.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3084,
          "referenceAllele": "C",
          "start": 3083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526021.1:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524323.1:p.Arg1014Ter",
        "hgvsWellDefined": "XP_011524323.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3123,
          "referenceAllele": "C",
          "start": 3122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526022.1:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524324.1:p.Arg1014Ter",
        "hgvsWellDefined": "XP_011524324.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.1:c.2926C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Arg976Ter",
        "hgvsWellDefined": "XP_011524325.1:p.Arg976_Ser1213delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2560,
          "referenceAllele": "C",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526024.1:c.2320C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524326.1:p.Arg774Ter",
        "hgvsWellDefined": "XP_011524326.1:p.Arg774_Ser1011delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093132"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829608234",
      "coordinates": [
        {
          "allele": "T",
          "end": 3380,
          "referenceAllele": "C",
          "start": 3379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_005603.6:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005594.2:p.Arg1014Ter",
        "hgvsWellDefined": "NP_005594.2:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3890,
          "referenceAllele": "C",
          "start": 3889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_006722481.4:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722544.1:p.Arg1014Ter",
        "hgvsWellDefined": "XP_006722544.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3776,
          "referenceAllele": "C",
          "start": 3775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "XM_011526023.3:c.2926C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011524325.1:p.Arg976Ter",
        "hgvsWellDefined": "XP_011524325.1:p.Arg976_Ser1213delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548105"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828509711",
      "coordinates": [
        {
          "allele": "T",
          "end": 3383,
          "referenceAllele": "C",
          "start": 3382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374385.1:c.3040C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361314.1:p.Arg1014Ter",
        "hgvsWellDefined": "NP_001361314.1:p.Arg1014_Ser1251delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693251",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648908.2:c.3040C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001374385.1:c.3040C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497896.1:p.Arg1014Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001361314.1:p.Arg1014Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072941",
      "coordinates": [
        {
          "allele": "T",
          "end": 3285,
          "referenceAllele": "C",
          "start": 3284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003706",
      "geneNCBI_id": 5205,
      "geneSymbol": "ATP8B1",
      "hgvs": [
        "NM_001374386.1:c.2890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361315.1:p.Arg964Ter",
        "hgvsWellDefined": "NP_001361315.1:p.Arg964_Ser1201delinsPheProGlyLeuTyrIleValGlyGlnArgAspLeuLeuPheAsnTyrLysArgPhePheValSerLeuLeuHisGlyValLeuThrSerMetIleLeuPhePheIleProLeuGlyAlaTyrLeuGlnThrValGlyGlnAspGlyGluAlaProSerAspTyrGlnSerPheAlaValThrIleAlaSerAlaLeuValIleThrValAsnPheGlnIleGlyLeuAspThrSerTyrTrpThrPheValAsnAlaPheSerIlePheGlySerIleAlaLeuTyrPheGlyIleMetPheAspPheHisSerAlaGlyIleHisValLeuPheProSerAlaPheGlnPheThrGlyThrAlaSerAsnAlaLeuArgGlnProTyrIleTrpLeuThrIleIleLeuAlaValAlaValCysLeuLeuProValValAlaIleArgPheLeuSerMetThrIleTrpProSerGluSerAspLysIleGlnLysHisArgLysArgLeuLysAlaGluGluGlnTrpGlnArgArgGlnGlnValPheArgArgGlyValSerThrArgArgSerAlaTyrAlaPheSerHisGlnArgGlyTyrAlaAspLeuIleSerSerGlyArgSerIleArgLysLysArgSerProLeuAspAlaIleValAlaAspGlyThrAlaGluTyrArgArgThrGlyAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "endIntronDirection": "+",
          "endIntronOffset": 10653,
          "referenceAllele": "G",
          "start": 682,
          "startIntronDirection": "+",
          "startIntronOffset": 10652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN056042",
      "geneNCBI_id": 100505549,
      "geneSymbol": "ATP8B1-AS1",
      "hgvs": [
        "NR_164148.1:n.682+10653G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS705709"
    }
  ],
  "type": "nucleotide"
}