{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA349118433",
  "communityStandardTitle": [
    "NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3224352[alleleid]",
        "alleleId": 3224352,
        "preferredName": "NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3064146",
        "RCV": [
          "RCV003988734"
        ],
        "variationId": 3064146
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169781308A>T?assembly=hg19",
        "id": "chr2:g.169781308A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.168924798A>T?assembly=hg38",
        "id": "chr2:g.168924798A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/959196154",
        "rs": 959196154
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 168924798,
          "referenceAllele": "A",
          "start": 168924797
        }
      ],
      "hgvs": [
        "NC_000002.12:g.168924798A>T",
        "CM000664.2:g.168924798A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169781308,
          "referenceAllele": "A",
          "start": 169781307
        }
      ],
      "hgvs": [
        "NC_000002.11:g.169781308A>T",
        "CM000664.1:g.169781308A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 169489554,
          "referenceAllele": "A",
          "start": 169489553
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169489554A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111526,
          "referenceAllele": "T",
          "start": 111525
        }
      ],
      "hgvs": [
        "NG_007374.1:g.111526T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000551"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 111599,
          "referenceAllele": "T",
          "start": 111598
        }
      ],
      "hgvs": [
        "NG_007374.2:g.111599T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616073"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 85,
          "referenceAllele": "T",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000648875.1:c.85T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770229"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2001,
          "referenceAllele": "T",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000649448.1:c.2001T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497165.1:p.Tyr667Ter",
        "hgvsWellDefined": "ENSP00000497165.1:p.Tyr667_Ser780delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3751,
          "referenceAllele": "T",
          "start": 3750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000650372.1:c.3624T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497931.1:p.Tyr1208Ter",
        "hgvsWellDefined": "ENSP00000497931.1:p.Tyr1208_Ser1321delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771082",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.3624T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.3624T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Tyr1208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Tyr1208Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3749,
          "referenceAllele": "T",
          "start": 3748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000263817.6:c.3624T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263817.6:p.Tyr1208Ter",
        "hgvsWellDefined": "ENSP00000263817.6:p.Tyr1208_Ser1321delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2241,
          "referenceAllele": "T",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "ENST00000439188.1:c.2241T>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416058.1:n.2241T>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295303"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905966",
      "coordinates": [
        {
          "allele": "A",
          "end": 3750,
          "referenceAllele": "T",
          "start": 3749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.2:c.3624T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Tyr1208Ter",
        "hgvsWellDefined": "NP_003733.2:p.Tyr1208_Ser1321delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3801,
          "referenceAllele": "T",
          "start": 3800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.2:c.3666T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Tyr1222Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Tyr1222_Ser1335delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069850"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3861,
          "referenceAllele": "T",
          "start": 3860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.1:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Tyr1242Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Tyr1242_Ser1355delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3861,
          "referenceAllele": "T",
          "start": 3860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.1:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Tyr1242Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Tyr1242_Ser1355delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079336"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3783,
          "referenceAllele": "T",
          "start": 3782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512079.1:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510381.1:p.Tyr1242Ter",
        "hgvsWellDefined": "XP_011510381.1:p.Tyr1242_Ser1355delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.1:c.1950T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Tyr650Ter",
        "hgvsWellDefined": "XP_011510383.1:p.Tyr650_Ser763delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905966",
      "coordinates": [
        {
          "allele": "A",
          "end": 3751,
          "referenceAllele": "T",
          "start": 3750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "NM_003742.4:c.3624T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003733.2:p.Tyr1208Ter",
        "hgvsWellDefined": "NP_003733.2:p.Tyr1208_Ser1321delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525126",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000650372.1:c.3624T>A"
          },
          "RefSeq": {
            "hgvs": "NM_003742.4:c.3624T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497931.1:p.Tyr1208Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003733.2:p.Tyr1208Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3862,
          "referenceAllele": "T",
          "start": 3861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_006712817.3:c.3666T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712880.1:p.Tyr1222Ter",
        "hgvsWellDefined": "XP_006712880.1:p.Tyr1222_Ser1335delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538360"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3922,
          "referenceAllele": "T",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512077.2:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510379.1:p.Tyr1242Ter",
        "hgvsWellDefined": "XP_011510379.1:p.Tyr1242_Ser1355delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3922,
          "referenceAllele": "T",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512078.2:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510380.1:p.Tyr1242Ter",
        "hgvsWellDefined": "XP_011510380.1:p.Tyr1242_Ser1355delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_011512081.2:c.1950T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510383.1:p.Tyr650Ter",
        "hgvsWellDefined": "XP_011510383.1:p.Tyr650_Ser763delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3924,
          "referenceAllele": "T",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005165.1:c.3726T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860654.1:p.Tyr1242Ter",
        "hgvsWellDefined": "XP_016860654.1:p.Tyr1242_Ser1314delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysGlnProCysCysAspHisLeuAspLysSerHisThrProGlnMetAlaGluGlnGluAspIleGlnProAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560508"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3048,
          "referenceAllele": "T",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005166.1:c.2955T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860655.1:p.Tyr985Ter",
        "hgvsWellDefined": "XP_016860655.1:p.Tyr985_Ser1098delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2606,
          "referenceAllele": "T",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000042",
      "geneNCBI_id": 8647,
      "geneSymbol": "ABCB11",
      "hgvs": [
        "XM_017005167.1:c.2409T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860656.1:p.Tyr803Ter",
        "hgvsWellDefined": "XP_016860656.1:p.Tyr803_Ser916delinsGluThrAsnValGlySerGlnGlySerGlnLeuSerArgGlyGluLysGlnArgIleAlaIleAlaArgAlaIleValArgAspProLysIleLeuLeuLeuAspGluAlaThrSerAlaLeuAspThrGluSerGluLysThrValGlnValAlaLeuAspLysAlaArgGluGlyArgThrCysIleValIleAlaHisArgLeuSerThrIleGlnAsnAlaAspIleIleAlaValMetAlaGlnGlyValValIleGluLysGlyThrHisGluGluLeuMetAlaGlnLysGlyAlaTyrTyrLysLeuValThrThrGlySerProIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560510"
    }
  ],
  "type": "nucleotide"
}