{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349124098",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.1029C>G (p.Tyr343Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2955275[alleleid]",
        "alleleId": 2955275,
        "preferredName": "NM_003742.4(ABCB11):c.1029C>G (p.Tyr343Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2798038",
        "RCV": [
          "RCV003673549"
        ],
        "variationId": 2798038
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169842674G>C?assembly=hg19",
        "id": "chr2:g.169842674G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168986164G>C?assembly=hg38",
        "id": "chr2:g.168986164G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/751446926",
        "rs": 751446926
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-168986164-G-C?dataset=gnomad_r4",
        "id": "2-168986164-G-C",
        "variant": "2:168986164 G / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 168986164,
          "referenceAllele": "G",
          "start": 168986163
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168986164G>C",
        "CM000664.2:g.168986164G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 169842674,
          "referenceAllele": "G",
          "start": 169842673
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169842674G>C",
        "CM000664.1:g.169842674G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 169550920,
          "referenceAllele": "G",
          "start": 169550919
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169550920G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50160,
          "referenceAllele": "C",
          "start": 50159
        }
      ],
      "hgvs": [
        "NG_007374.1:g.50160C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 50233,
          "referenceAllele": "C",
          "start": 50232
        }
      ],
      "hgvs": [
        "NG_007374.2:g.50233C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.1029C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Tyr343Ter",
        "hgvsWellDefined": "ENSP00000497931.1:p.Tyr343_Ser1321delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1029C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1029C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Tyr343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Tyr343Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1154,
          "referenceAllele": "C",
          "start": 1153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.1029C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Tyr343Ter",
        "hgvsWellDefined": "ENSP00000263817.6:p.Tyr343_Ser1321delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905913",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.1029C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Tyr343Ter",
        "hgvsWellDefined": "NP_003733.2:p.Tyr343_Ser1321delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.1071C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Tyr357Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Tyr357_Ser1335delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Tyr377_Ser1355delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Tyr377_Ser1355delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1188,
          "referenceAllele": "C",
          "start": 1187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011510381.1:p.Tyr377_Ser1355delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.1:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Tyr377_Arg936delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905913",
      "coordinates": [
        {
          "allele": "G",
          "end": 1156,
          "referenceAllele": "C",
          "start": 1155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.1029C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Tyr343Ter",
        "hgvsWellDefined": "NP_003733.2:p.Tyr343_Ser1321delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.1029C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.1029C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Tyr343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Tyr343Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1267,
          "referenceAllele": "C",
          "start": 1266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.1071C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Tyr357Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Tyr357_Ser1335delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Tyr377_Ser1355delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Tyr377_Ser1355delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512080.2:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510382.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_011510382.1:p.Tyr377_Arg936delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyLeuGluAlaGluProGlyHisLeuValLeuLeuProLeuLeuGlyPheIleArgSerHisThrAspGlnAspValAspArgIleCysLeuSerArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542411"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.1131C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Tyr377Ter",
        "hgvsWellDefined": "XP_016860654.1:p.Tyr377_Ser1314delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.360C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Tyr120Ter",
        "hgvsWellDefined": "XP_016860655.1:p.Tyr120_Ser1098delinsGlySerThrLeuValLeuAspGluGlyGluTyrThrProGlyThrLeuValGlnIlePheLeuSerValIleValGlyAlaLeuAsnLeuGlyAsnAlaSerProCysLeuGluAlaPheAlaThrGlyArgAlaAlaAlaThrSerIlePheGluThrIleAspArgLysProIleIleAspCysMetSerGluAspGlyTyrLysLeuAspArgIleLysGlyGluIleGluPheHisAsnValThrPheHisTyrProSerArgProGluValLysIleLeuAsnAspLeuAsnMetValIleLysProGlyGluMetThrAlaLeuValGlyProSerGlyAlaGlyLysSerThrAlaLeuGlnLeuIleGlnArgPheTyrAspProCysGluGlyMetValThrValAspGlyHisAspIleArgSerLeuAsnIleGlnTrpLeuArgAspGlnIleGlyIleValGluGlnGluProValLeuPheSerThrThrIleAlaGluAsnIleArgTyrGlyArgGluAspAlaThrMetGluAspIleValGlnAlaAlaLysGluAlaAsnAlaTyrAsnPheIleMetAspLeuProGlnGlnPheAspThrLeuValGlyGluGlyGlyGlyGlnMetSerGlyGlyGlnLysGlnArgValAlaIleAlaArgAlaLeuIleArgAsnProLysIleLeuLeuLeuAspMetAlaThrSerAlaLeuAspAsnGluSerGluAlaMetValGlnGluValLeuSerLysIleGlnHisGlyHisThrIleIleSerValAlaHisArgLeuSerThrValArgAlaAlaAspThrIleIleGlyPheGluHisGlyThrAlaValGluArgGlyThrHisGluGluLeuLeuGluArgLysGlyValTyrPheThrLeuValThrLeuGlnSerGlnGlyAsnGlnAlaLeuAsnGluGluAspIleLysAspAlaThrGluAspAspMetLeuAlaArgThrPheSerArgGlySerTyrGlnAspSerLeuArgAlaSerIleArgGlnArgSerLysSerGlnLeuSerTyrLeuValHisGluProProLeuAlaValValAspHisLysSerThrTyrGluGluAspArgLysAspLysAspIleProValGlnGluGluValGluProAlaProValArgArgIleLeuLysPheSerAlaProGluTrpProTyrMetLeuValGlySerValGlyAlaAlaValAsnGlyThrValThrProLeuTyrAlaPheLeuPheSerGlnIleLeuGlyThrPheSerIleProAspLysGluGluGlnArgSerGlnIleAsnGlyValCysLeuLeuPheValAlaMetGlyCysValSerLeuPheThrGlnPheLeuGlnGlyTyrAlaPheAlaLysSerGlyGluLeuLeuThrLysArgLeuArgLysPheGlyPheArgAlaMetLeuGlyGlnAspIleAlaTrpPheAspAspLeuArgAsnSerProGlyAlaLeuThrThrArgLeuAlaThrAspAlaSerGlnValGlnGlyAlaAlaGlySerGlnIleGlyMetIleValAsnSerPheThrAsnValThrValAlaMetIleIleAlaPheSerPheSerTrpLysLeuSerLeuValIleLeuCysPhePheProPheLeuAlaLeuSerGlyAlaThrGlnThrArgMetLeuThrGlyPheAlaSerArgAspLysGlnAlaLeuGluMetValGlyGlnIleThrAsnGluAlaLeuSerAsnIleArgThrValAlaGlyIleGlyLysGluArgArgPheIleGluAlaLeuGluThrGluLeuGluLysProPheLysThrAlaIleGlnLysAlaAsnIleTyrGlyPheCysPheAlaPheAlaGlnCysIleMetPheIleAlaAsnSerAlaSerTyrArgTyrGlyGlyTyrLeuIleSerAsnGluGlyLeuHisPheSerTyrValPheArgValIleSerAlaValValLeuSerAlaThrAlaLeuGlyArgAlaPheSerTyrThrProSerTyrAlaLysAlaLysIleSerAlaAlaArgPhePheGlnLeuLeuAspArgGlnProProIleSerValTyrAsnThrAlaGlyGluLysTrpAspAsnPheGlnGlyLysIleAspPheValAspCysLysPheThrTyrProSerArgProAspSerGlnValLeuAsnGlyLeuSerValSerIleSerProGlyGlnThrLeuAlaPheValGlySerSerGlyCysGlyLysSerThrSerIleGlnLeuLeuGluArgPheTyrAspProAspGlnGlyLysValMetIleAspGlyHisAspSerLysLysValAsnValGlnPheLeuArgSerAsnIleGlyIleValSerGlnGluProValLeuPheAlaCysSerIleMetAspAsnIleLysTyrGlyAspAsnThrLysGluIleProMetGluArgValIleAlaAlaAlaLysGlnAlaGlnLeuHisAspPheValMetSerLeuProGluLysTyrGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    }
  ],
  "type": "nucleotide"
}