{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253876",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=21628[alleleid]",
        "alleleId": 21628,
        "preferredName": "NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/6589",
        "RCV": [
          "RCV000006967",
          "RCV001851713",
          "RCV003472992"
        ],
        "variationId": 6589
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-169826641-G-A",
        "id": "2-169826641-G-A",
        "variant": "2:169826641 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169826641G>A?assembly=hg19",
        "id": "chr2:g.169826641G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168970131G>A?assembly=hg38",
        "id": "chr2:g.168970131G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/72549401",
        "rs": 72549401
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169826641-G-A?dataset=gnomad_r2_1",
        "id": "2-169826641-G-A",
        "variant": "2:169826641 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168970131-G-A?dataset=gnomad_r3",
        "id": "2-168970131-G-A",
        "variant": "2:168970131 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168970131-G-A?dataset=gnomad_r4",
        "id": "2-168970131-G-A",
        "variant": "2:168970131 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 168970131,
          "referenceAllele": "G",
          "start": 168970130
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168970131G>A",
        "CM000664.2:g.168970131G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169826641,
          "referenceAllele": "G",
          "start": 169826640
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169826641G>A",
        "CM000664.1:g.169826641G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169534887,
          "referenceAllele": "G",
          "start": 169534886
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169534887G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66193,
          "referenceAllele": "C",
          "start": 66192
        }
      ],
      "hgvs": [
        "NG_007374.1:g.66193C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 66266,
          "referenceAllele": "C",
          "start": 66265
        }
      ],
      "hgvs": [
        "NG_007374.2:g.66266C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40,
          "referenceAllele": "C",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.40C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Arg14Ter",
        "hgvsWellDefined": "ENSP00000497165.1:p.Arg14_Ser780delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValAlaIleSerSerLeuIleSerValThrArgAsnValCysLeuLeuAsnSerHisHisProMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.1723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Arg575Ter",
        "hgvsWellDefined": "ENSP00000497931.1:p.Arg575_Ser1321delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1723C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1723C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Arg575Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Arg575Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.1723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Arg575Ter",
        "hgvsWellDefined": "ENSP00000263817.6:p.Arg575_Ser1321delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.412C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.412C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000478354.1:n.461C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS318977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253877",
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.1723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Arg575Ter",
        "hgvsWellDefined": "NP_003733.2:p.Arg575_Ser1321delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.1765C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Arg589Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Arg589_Ser1335delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Arg609_Ser1355delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Arg609_Ser1355delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1882,
          "referenceAllele": "C",
          "start": 1881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_011510381.1:p.Arg609_Ser1355delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1964,
          "referenceAllele": "C",
          "start": 1963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Arg609_Arg936delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Arg17Ter",
        "hgvsWellDefined": "XP_011510383.1:p.Arg17_Ser763delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253877",
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.1723C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Arg575Ter",
        "hgvsWellDefined": "NP_003733.2:p.Arg575_Ser1321delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1723C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1723C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Arg575Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Arg575Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.1765C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Arg589Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Arg589_Ser1335delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2021,
          "referenceAllele": "C",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Arg609_Ser1355delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2021,
          "referenceAllele": "C",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Arg609_Ser1355delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Arg609_Arg936delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.49C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Arg17Ter",
        "hgvsWellDefined": "XP_011510383.1:p.Arg17_Ser763delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.1825C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Arg609Ter",
        "hgvsWellDefined": "XP_016860654.1:p.Arg609_Ser1314delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1147,
          "referenceAllele": "C",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.1054C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Arg352Ter",
        "hgvsWellDefined": "XP_016860655.1:p.Arg352_Ser1098delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Arg170Ter",
        "hgvsWellDefined": "XP_016860656.1:p.Arg170_Ser916delinsAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}