{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253366",
  "communityStandardTitle": [
    "NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1021063",
        "active": true,
        "id": "COSM1021063"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20011[alleleid]",
        "alleleId": 20011,
        "preferredName": "NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4972",
        "RCV": [
          "RCV000005260",
          "RCV000993691",
          "RCV001699176",
          "RCV003298028",
          "RCV003952343"
        ],
        "variationId": 4972
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-44100948-C-T",
        "id": "2-44100948-C-T",
        "variant": "2:44100948 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.44100948C>T?assembly=hg19",
        "id": "chr2:g.44100948C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.43873809C>T?assembly=hg38",
        "id": "chr2:g.43873809C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852991",
        "rs": 137852991
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-44100948-C-T?dataset=gnomad_r2_1",
        "id": "2-44100948-C-T",
        "variant": "2:44100948 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43873809-C-T?dataset=gnomad_r3",
        "id": "2-43873809-C-T",
        "variant": "2:43873809 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-43873809-C-T?dataset=gnomad_r4",
        "id": "2-43873809-C-T",
        "variant": "2:43873809 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43873809,
          "referenceAllele": "C",
          "start": 43873808
        }
      ],
      "hgvs": [
        "NC_000002.12:g.43873809C>T",
        "CM000664.2:g.43873809C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 44100948,
          "referenceAllele": "C",
          "start": 44100947
        }
      ],
      "hgvs": [
        "NC_000002.11:g.44100948C>T",
        "CM000664.1:g.44100948C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 43954452,
          "referenceAllele": "C",
          "start": 43954451
        }
      ],
      "hgvs": [
        "NC_000002.10:g.43954452C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 39846,
          "referenceAllele": "C",
          "start": 39845
        }
      ],
      "hgvs": [
        "NG_008884.1:g.39846C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001279"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 46868,
          "referenceAllele": "C",
          "start": 46867
        }
      ],
      "hgvs": [
        "NG_008884.2:g.46868C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706090"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.4:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Arg412Ter",
        "hgvsWellDefined": "ENSP00000272286.2:p.Arg412_Trp673delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743232",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1234C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1234C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Arg412Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Arg412Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000644611.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495423.1:p.Arg416Ter",
        "hgvsWellDefined": "ENSP00000495423.1:p.Arg416Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767900"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "ENST00000272286.2:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272286.2:p.Arg412Ter",
        "hgvsWellDefined": "ENSP00000272286.2:p.Arg412_Trp673delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253367",
      "coordinates": [
        {
          "allele": "T",
          "end": 1324,
          "referenceAllele": "C",
          "start": 1323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.2:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Arg412Ter",
        "hgvsWellDefined": "NP_071882.1:p.Arg412_Trp673delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_005264483.2:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264540.1:p.Arg411Ter",
        "hgvsWellDefined": "XP_005264540.1:p.Arg411_Trp672delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.1:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Arg416Ter",
        "hgvsWellDefined": "XP_011531331.1:p.Arg416_Trp677delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100055"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.1:c.1243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Arg415Ter",
        "hgvsWellDefined": "XP_011531332.1:p.Arg415_Trp676delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3014,
          "referenceAllele": "C",
          "start": 3013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533031.1:c.1018C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531333.1:p.Arg340Ter",
        "hgvsWellDefined": "XP_011531333.1:p.Arg340_Trp601delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "C",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.1:n.1736C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS134403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052743",
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.1:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Arg411Ter",
        "hgvsWellDefined": "NP_001344250.1:p.Arg411_Trp672delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1891,
          "referenceAllele": "C",
          "start": 1890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533029.2:c.1246C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531331.1:p.Arg416Ter",
        "hgvsWellDefined": "XP_011531331.1:p.Arg416_Trp677delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1733,
          "referenceAllele": "C",
          "start": 1732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XM_011533030.2:c.1243C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531332.1:p.Arg415Ter",
        "hgvsWellDefined": "XP_011531332.1:p.Arg415_Trp676delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_001738891.1:n.1750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1750,
          "referenceAllele": "C",
          "start": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "XR_939707.2:n.1750C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612370"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253367",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_022437.3:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_071882.1:p.Arg412Ter",
        "hgvsWellDefined": "NP_071882.1:p.Arg412_Trp673delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670434",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272286.4:c.1234C>T"
          },
          "RefSeq": {
            "hgvs": "NM_022437.3:c.1234C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272286.2:p.Arg412Ter"
          },
          "RefSeq": {
            "hgvs": "NP_071882.1:p.Arg412Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828052743",
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013887",
      "geneNCBI_id": 64241,
      "geneSymbol": "ABCG8",
      "hgvs": [
        "NM_001357321.2:c.1231C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001344250.1:p.Arg411Ter",
        "hgvsWellDefined": "NP_001344250.1:p.Arg411_Trp672delinsAspLeuProThrLeuLeuIleHisGlyAlaGluAlaCysLeuMetSerMetThrIleGlyPheLeuTyrPheGlyHisGlySerIleGlnLeuSerPheMetAspThrAlaAlaLeuLeuPheMetIleGlyAlaLeuIleProPheAsnValIleLeuAspValIleSerLysCysTyrSerGluArgAlaMetLeuTyrTyrGluLeuGluAspGlyLeuTyrThrThrGlyProTyrPhePheAlaLysIleLeuGlyGluLeuProGluHisCysAlaTyrIleIleIleTyrGlyMetProThrTyrTrpLeuAlaAsnLeuArgProGlyLeuGlnProPheLeuLeuHisPheLeuLeuValTrpLeuValValPheCysCysArgIleMetAlaLeuAlaAlaAlaAlaLeuLeuProThrPheHisMetAlaSerPhePheSerAsnAlaLeuTyrAsnSerPheTyrLeuAlaGlyGlyPheMetIleAsnLeuSerSerLeuTrpThrValProAlaTrpIleSerLysValSerPheLeuArgTrpCysPheGluGlyLeuMetLysIleGlnPheSerArgArgThrTyrLysMetProLeuGlyAsnLeuThrIleAlaValSerGlyAspLysIleLeuSerValMetGluLeuAspSerTyrProLeuTyrAlaIleTyrLeuIleValIleGlyLeuSerGlyGlyPheMetValLeuTyrTyrValSerLeuArgPheIleLysGlnLysProSerGlnAspTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690462"
    }
  ],
  "type": "nucleotide"
}