{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA201872",
  "communityStandardTitle": [
    "NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=192810[alleleid]",
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        "preferredName": "NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/195649",
        "RCV": [
          "RCV000176262",
          "RCV003416080"
        ],
        "variationId": 195649
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/10-101591385-C-A",
        "id": "10-101591385-C-A",
        "variant": "10:101591385 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.101591385C>A?assembly=hg19",
        "id": "chr10:g.101591385C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.99831628C>A?assembly=hg38",
        "id": "chr10:g.99831628C>A"
      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/17222547",
        "rs": 17222547
      }
    ],
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-101591385-C-A?dataset=gnomad_r2_1",
        "id": "10-101591385-C-A",
        "variant": "10:101591385 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-99831628-C-A?dataset=gnomad_r3",
        "id": "10-99831628-C-A",
        "variant": "10:99831628 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/10-99831628-C-A?dataset=gnomad_r4",
        "id": "10-99831628-C-A",
        "variant": "10:99831628 C / A"
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    ]
  },
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      "chromosome": "10",
      "coordinates": [
        {
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        }
      ],
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        "CM000672.2:g.99831628C>A"
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      "referenceGenome": "GRCh38",
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    {
      "chromosome": "10",
      "coordinates": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000034"
    },
    {
      "chromosome": "10",
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      "referenceGenome": "NCBI36",
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    },
    {
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          "end": 53923,
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          "start": 53922
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS001979"
    },
    {
      "coordinates": [
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        "NG_011798.2:g.54031C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS616153"
    }
  ],
  "transcriptAlleles": [
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      ],
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      "geneNCBI_id": 1244,
      "geneSymbol": "ABCC2",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS769626",
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        },
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      "coordinates": [
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          "start": 3013
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      ],
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      "geneSymbol": "ABCC2",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359478.4:p.Tyr967Ter",
        "hgvsWellDefined": "ENSP00000359478.4:p.Tyr967_Phe1545delinsLeuGluTyrLeuGlnAlaIleGlyLeuPheSerIlePhePheIleIleLeuAlaPheValMetAsnSerValAlaPheIleGlySerAsnLeuTrpLeuSerAlaTrpThrSerAspSerLysIlePheAsnSerThrAspTyrProAlaSerGlnArgAspMetArgValGlyValTyrGlyAlaLeuGlyLeuAlaGlnGlyIlePheValPheIleAlaHisPheTrpSerAlaPheGlyPheValHisAlaSerAsnIleLeuHisLysGlnLeuLeuAsnAsnIleLeuArgAlaProMetArgPhePheAspThrThrProThrGlyArgIleValAsnArgPheAlaGlyAspIleSerThrValAspAspThrLeuProGlnSerLeuArgSerTrpIleThrCysPheLeuGlyIleIleSerThrLeuValMetIleCysMetAlaThrProValPheThrIleIleValIleProLeuGlyIleIleTyrValSerValGlnMetPheTyrValSerThrSerArgGlnLeuArgArgLeuAspSerValThrArgSerProIleTyrSerHisPheSerGluThrValSerGlyLeuProValIleArgAlaPheGluHisGlnGlnArgPheLeuLysHisAsnGluValArgIleAspThrAsnGlnLysCysValPheSerTrpIleThrSerAsnArgTrpLeuAlaIleArgLeuGluLeuValGlyAsnLeuThrValPhePheSerAlaLeuMetMetValIleTyrArgAspThrLeuSerGlyAspThrValGlyPheValLeuSerAsnAlaLeuAsnIleThrGlnThrLeuAsnTrpLeuValArgMetThrSerGluIleGluThrAsnIleValAlaValGluArgIleThrGluTyrThrLysValGluAsnGluAlaProTrpValThrAspLysArgProProProAspTrpProSerLysGlyLysIleGlnPheAsnAsnTyrGlnValArgTyrArgProGluLeuAspLeuValLeuArgGlyIleThrCysAspIleGlySerMetGluLysIleGlyValValGlyArgThrGlyAlaGlyLysSerSerLeuThrAsnCysLeuPheArgIleLeuGluAlaAlaGlyGlyGlnIleIleIleAspGlyValAspIleAlaSerIleGlyLeuHisAspLeuArgGluLysLeuThrIleIleProGlnAspProIleLeuPheSerGlySerLeuArgMetAsnLeuAspProPheAsnAsnTyrSerAspGluGluIleTrpLysAlaLeuGluLeuAlaHisLeuLysSerPheValAlaSerLeuGlnLeuGlyLeuSerHisGluValThrGluAlaGlyGlyAsnLeuSerIleGlyGlnArgGlnLeuLeuCysLeuGlyArgAlaLeuLeuArgLysSerLysIleLeuValLeuAspGluAlaThrAlaAlaValAspLeuGluThrAspAsnLeuIleGlnThrThrIleGlnAsnGluPheAlaHisCysThrValIleThrIleAlaHisArgLeuHisThrIleMetAspSerAspLysValMetValLeuAspAsnGlyLysIleIleGluCysGlySerProGluGluLeuLeuGlnIleProGlyProPheTyrPheMetAlaLysGluAlaGlyIleGluAsnValAsnSerThrLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA201873",
      "coordinates": [
        {
          "allele": "A",
          "end": 3148,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000053",
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      "geneSymbol": "ABCC2",
      "hgvs": [
        "NM_000392.4:c.2901C>A"
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      "proteinEffect": {
        "hgvs": "NP_000383.1:p.Tyr967Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006453"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2453,
          "referenceAllele": "C",
          "start": 2452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000053",
      "geneNCBI_id": 1244,
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        "XM_006717630.2:c.2205C>A"
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      "proteinEffect": {
        "hgvs": "XP_006717693.1:p.Tyr735Ter",
        "hgvsWellDefined": "XP_006717693.1:p.Tyr735_Phe1313delinsLeuGluTyrLeuGlnAlaIleGlyLeuPheSerIlePhePheIleIleLeuAlaPheValMetAsnSerValAlaPheIleGlySerAsnLeuTrpLeuSerAlaTrpThrSerAspSerLysIlePheAsnSerThrAspTyrProAlaSerGlnArgAspMetArgValGlyValTyrGlyAlaLeuGlyLeuAlaGlnGlyIlePheValPheIleAlaHisPheTrpSerAlaPheGlyPheValHisAlaSerAsnIleLeuHisLysGlnLeuLeuAsnAsnIleLeuArgAlaProMetArgPhePheAspThrThrProThrGlyArgIleValAsnArgPheAlaGlyAspIleSerThrValAspAspThrLeuProGlnSerLeuArgSerTrpIleThrCysPheLeuGlyIleIleSerThrLeuValMetIleCysMetAlaThrProValPheThrIleIleValIleProLeuGlyIleIleTyrValSerValGlnMetPheTyrValSerThrSerArgGlnLeuArgArgLeuAspSerValThrArgSerProIleTyrSerHisPheSerGluThrValSerGlyLeuProValIleArgAlaPheGluHisGlnGlnArgPheLeuLysHisAsnGluValArgIleAspThrAsnGlnLysCysValPheSerTrpIleThrSerAsnArgTrpLeuAlaIleArgLeuGluLeuValGlyAsnLeuThrValPhePheSerAlaLeuMetMetValIleTyrArgAspThrLeuSerGlyAspThrValGlyPheValLeuSerAsnAlaLeuAsnIleThrGlnThrLeuAsnTrpLeuValArgMetThrSerGluIleGluThrAsnIleValAlaValGluArgIleThrGluTyrThrLysValGluAsnGluAlaProTrpValThrAspLysArgProProProAspTrpProSerLysGlyLysIleGlnPheAsnAsnTyrGlnValArgTyrArgProGluLeuAspLeuValLeuArgGlyIleThrCysAspIleGlySerMetGluLysIleGlyValValGlyArgThrGlyAlaGlyLysSerSerLeuThrAsnCysLeuPheArgIleLeuGluAlaAlaGlyGlyGlnIleIleIleAspGlyValAspIleAlaSerIleGlyLeuHisAspLeuArgGluLysLeuThrIleIleProGlnAspProIleLeuPheSerGlySerLeuArgMetAsnLeuAspProPheAsnAsnTyrSerAspGluGluIleTrpLysAlaLeuGluLeuAlaHisLeuLysSerPheValAlaSerLeuGlnLeuGlyLeuSerHisGluValThrGluAlaGlyGlyAsnLeuSerIleGlyGlnArgGlnLeuLeuCysLeuGlyArgAlaLeuLeuArgLysSerLysIleLeuValLeuAspGluAlaThrAlaAlaValAspLeuGluThrAspAsnLeuIleGlnThrThrIleGlnAsnGluPheAlaHisCysThrValIleThrIleAlaHisArgLeuHisThrIleMetAspSerAspLysValMetValLeuAspAsnGlyLysIleIleGluCysGlySerProGluGluLeuLeuGlnIleProGlyProPheTyrPheMetAlaLysGluAlaGlyIleGluAsnValAsnSerThrLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2959,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000053",
      "geneNCBI_id": 1244,
      "geneSymbol": "ABCC2",
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        "XM_011539291.1:c.*14C>A"
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      "proteinEffect": {
        "hgvs": "XP_011537593.1:n.*14C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS106241"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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        }
      ],
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      "geneNCBI_id": 1244,
      "geneSymbol": "ABCC2",
      "hgvs": [
        "XR_945604.1:n.3090C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS139352"
    },
    {
      "coordinates": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS139353"
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    {
      "@id": "http://reg.genome.network/allele/PA891863432",
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000383.2:p.Tyr967Ter",
        "hgvsWellDefined": "NP_000383.2:p.Tyr967_Phe1545delinsLeuGluTyrLeuGlnAlaIleGlyLeuPheSerIlePhePheIleIleLeuAlaPheValMetAsnSerValAlaPheIleGlySerAsnLeuTrpLeuSerAlaTrpThrSerAspSerLysIlePheAsnSerThrAspTyrProAlaSerGlnArgAspMetArgValGlyValTyrGlyAlaLeuGlyLeuAlaGlnGlyIlePheValPheIleAlaHisPheTrpSerAlaPheGlyPheValHisAlaSerAsnIleLeuHisLysGlnLeuLeuAsnAsnIleLeuArgAlaProMetArgPhePheAspThrThrProThrGlyArgIleValAsnArgPheAlaGlyAspIleSerThrValAspAspThrLeuProGlnSerLeuArgSerTrpIleThrCysPheLeuGlyIleIleSerThrLeuValMetIleCysMetAlaThrProValPheThrIleIleValIleProLeuGlyIleIleTyrValSerValGlnMetPheTyrValSerThrSerArgGlnLeuArgArgLeuAspSerValThrArgSerProIleTyrSerHisPheSerGluThrValSerGlyLeuProValIleArgAlaPheGluHisGlnGlnArgPheLeuLysHisAsnGluValArgIleAspThrAsnGlnLysCysValPheSerTrpIleThrSerAsnArgTrpLeuAlaIleArgLeuGluLeuValGlyAsnLeuThrValPhePheSerAlaLeuMetMetValIleTyrArgAspThrLeuSerGlyAspThrValGlyPheValLeuSerAsnAlaLeuAsnIleThrGlnThrLeuAsnTrpLeuValArgMetThrSerGluIleGluThrAsnIleValAlaValGluArgIleThrGluTyrThrLysValGluAsnGluAlaProTrpValThrAspLysArgProProProAspTrpProSerLysGlyLysIleGlnPheAsnAsnTyrGlnValArgTyrArgProGluLeuAspLeuValLeuArgGlyIleThrCysAspIleGlySerMetGluLysIleGlyValValGlyArgThrGlyAlaGlyLysSerSerLeuThrAsnCysLeuPheArgIleLeuGluAlaAlaGlyGlyGlnIleIleIleAspGlyValAspIleAlaSerIleGlyLeuHisAspLeuArgGluLysLeuThrIleIleProGlnAspProIleLeuPheSerGlySerLeuArgMetAsnLeuAspProPheAsnAsnTyrSerAspGluGluIleTrpLysAlaLeuGluLeuAlaHisLeuLysSerPheValAlaSerLeuGlnLeuGlyLeuSerHisGluValThrGluAlaGlyGlyAsnLeuSerIleGlyGlnArgGlnLeuLeuCysLeuGlyArgAlaLeuLeuArgLysSerLysIleLeuValLeuAspGluAlaThrAlaAlaValAspLeuGluThrAspAsnLeuIleGlnThrThrIleGlnAsnGluPheAlaHisCysThrValIleThrIleAlaHisArgLeuHisThrIleMetAspSerAspLysValMetValLeuAspAsnGlyLysIleIleGluCysGlySerProGluGluLeuLeuGlnIleProGlyProPheTyrPheMetAlaLysGluAlaGlyIleGluAsnValAsnSerThrLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510787",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_000392.5:c.2901C>A"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497274.1:p.Tyr967Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000383.2:p.Tyr967Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2456,
          "referenceAllele": "C",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000053",
      "geneNCBI_id": 1244,
      "geneSymbol": "ABCC2",
      "hgvs": [
        "XM_006717630.3:c.2205C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717693.1:p.Tyr735Ter",
        "hgvsWellDefined": "XP_006717693.1:p.Tyr735_Phe1313delinsLeuGluTyrLeuGlnAlaIleGlyLeuPheSerIlePhePheIleIleLeuAlaPheValMetAsnSerValAlaPheIleGlySerAsnLeuTrpLeuSerAlaTrpThrSerAspSerLysIlePheAsnSerThrAspTyrProAlaSerGlnArgAspMetArgValGlyValTyrGlyAlaLeuGlyLeuAlaGlnGlyIlePheValPheIleAlaHisPheTrpSerAlaPheGlyPheValHisAlaSerAsnIleLeuHisLysGlnLeuLeuAsnAsnIleLeuArgAlaProMetArgPhePheAspThrThrProThrGlyArgIleValAsnArgPheAlaGlyAspIleSerThrValAspAspThrLeuProGlnSerLeuArgSerTrpIleThrCysPheLeuGlyIleIleSerThrLeuValMetIleCysMetAlaThrProValPheThrIleIleValIleProLeuGlyIleIleTyrValSerValGlnMetPheTyrValSerThrSerArgGlnLeuArgArgLeuAspSerValThrArgSerProIleTyrSerHisPheSerGluThrValSerGlyLeuProValIleArgAlaPheGluHisGlnGlnArgPheLeuLysHisAsnGluValArgIleAspThrAsnGlnLysCysValPheSerTrpIleThrSerAsnArgTrpLeuAlaIleArgLeuGluLeuValGlyAsnLeuThrValPhePheSerAlaLeuMetMetValIleTyrArgAspThrLeuSerGlyAspThrValGlyPheValLeuSerAsnAlaLeuAsnIleThrGlnThrLeuAsnTrpLeuValArgMetThrSerGluIleGluThrAsnIleValAlaValGluArgIleThrGluTyrThrLysValGluAsnGluAlaProTrpValThrAspLysArgProProProAspTrpProSerLysGlyLysIleGlnPheAsnAsnTyrGlnValArgTyrArgProGluLeuAspLeuValLeuArgGlyIleThrCysAspIleGlySerMetGluLysIleGlyValValGlyArgThrGlyAlaGlyLysSerSerLeuThrAsnCysLeuPheArgIleLeuGluAlaAlaGlyGlyGlnIleIleIleAspGlyValAspIleAlaSerIleGlyLeuHisAspLeuArgGluLysLeuThrIleIleProGlnAspProIleLeuPheSerGlySerLeuArgMetAsnLeuAspProPheAsnAsnTyrSerAspGluGluIleTrpLysAlaLeuGluLeuAlaHisLeuLysSerPheValAlaSerLeuGlnLeuGlyLeuSerHisGluValThrGluAlaGlyGlyAsnLeuSerIleGlyGlnArgGlnLeuLeuCysLeuGlyArgAlaLeuLeuArgLysSerLysIleLeuValLeuAspGluAlaThrAlaAlaValAspLeuGluThrAspAsnLeuIleGlnThrThrIleGlnAsnGluPheAlaHisCysThrValIleThrIleAlaHisArgLeuHisThrIleMetAspSerAspLysValMetValLeuAspAsnGlyLysIleIleGluCysGlySerProGluGluLeuLeuGlnIleProGlyProPheTyrPheMetAlaLysGluAlaGlyIleGluAsnValAsnSerThrLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3008,
          "referenceAllele": "C",
          "start": 3007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000053",
      "geneNCBI_id": 1244,
      "geneSymbol": "ABCC2",
      "hgvs": [
        "XM_011539291.3:c.*14C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537593.1:n.*14C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553591"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3144,
          "referenceAllele": "C",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000053",
      "geneNCBI_id": 1244,
      "geneSymbol": "ABCC2",
      "hgvs": [
        "XR_945604.3:n.3144C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3144,
          "referenceAllele": "C",
          "start": 3143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000053",
      "geneNCBI_id": 1244,
      "geneSymbol": "ABCC2",
      "hgvs": [
        "XR_945605.3:n.3144C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614133"
    }
  ],
  "type": "nucleotide"
}