{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354618034",
  "communityStandardTitle": [
    "NM_005630.3(SLCO2A1):c.621C>A (p.Tyr207Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1163223[alleleid]",
        "alleleId": 1163223,
        "preferredName": "NM_005630.3(SLCO2A1):c.621C>A (p.Tyr207Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1174123",
        "RCV": [
          "RCV001527664"
        ],
        "variationId": 1174123
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133673814G>T?assembly=hg19",
        "id": "chr3:g.133673814G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.133954970G>T?assembly=hg38",
        "id": "chr3:g.133954970G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/778081416",
        "rs": 778081416
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-133954970-G-T?dataset=gnomad_r4",
        "id": "3-133954970-G-T",
        "variant": "3:133954970 G / T"
      }
    ]
  },
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    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 133954970,
          "referenceAllele": "G",
          "start": 133954969
        }
      ],
      "hgvs": [
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        "CM000665.2:g.133954970G>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 133673814,
          "referenceAllele": "G",
          "start": 133673813
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      ],
      "hgvs": [
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        "CM000665.1:g.133673814G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
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          "start": 135156503
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS005060"
    },
    {
      "coordinates": [
        {
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          "end": 102215,
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        }
      ],
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        "NG_031964.3:g.102215C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706144"
    }
  ],
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    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745671",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.621C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.621C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Tyr207Ter"
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          "RefSeq": {
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          }
        }
      }
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    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "endIntronDirection": "-",
          "endIntronOffset": 6269,
          "referenceAllele": "C",
          "start": 520,
          "startIntronDirection": "-",
          "startIntronOffset": 6270
        }
      ],
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        "ENST00000462770.5:n.521-6270C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
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          "start": 882
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      ],
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        "ENST00000464676.5:n.883C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS308448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 742,
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          "start": 741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000420028.3:p.Tyr207_Thr415delinsIleSerIleLeuPheAlaIleSerValPheGlyProAlaPheGlyTyrLeuLeuGlySerValMetLeuGlnIlePheValAspTyrGlyArgValAsnThrAlaAlaValAsnLeuValProGlyAspProArgTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleAlaHisGlnValLeuTyrIleArgSerLeuLeuProAlaAlaGlyThrAlaArgAlaGlnIleLeuSerSerThrArgSerValGluThrMetGluSerSerThrSerProLeuAlaMetProAlaAlaAlaThrSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321294"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "endIntronDirection": "-",
          "endIntronOffset": 1208,
          "referenceAllele": "C",
          "start": 509,
          "startIntronDirection": "-",
          "startIntronOffset": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "ENST00000493729.5:c.398-1209C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418893.1:n.398-1209C>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330820"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499271569",
      "coordinates": [
        {
          "allele": "A",
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          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.2:c.621C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Tyr207Ter",
        "hgvsWellDefined": "NP_005621.2:p.Tyr207_Ile643delinsIleSerIleLeuPheAlaIleSerValPheGlyProAlaPheGlyTyrLeuLeuGlySerValMetLeuGlnIlePheValAspTyrGlyArgValAsnThrAlaAlaValAsnLeuValProGlyAspProArgTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030716"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "XP_011511392.1:p.Tyr207Ter",
        "hgvsWellDefined": "XP_011511392.1:p.Tyr207_Thr587delinsIleSerIleLeuPheAlaIleSerValPheGlyProAlaPheGlyTyrLeuLeuGlySerValMetLeuGlnIlePheValAspTyrGlyArgValAsnThrAlaAlaValAsnLeuValProGlyAspProArgTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuValSerGlnProArgThrProSerSerSerLeuLysSerGlyHisProHisLeuGlyAlaSerValArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080345"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
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      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "XM_017007077.1:c.117C>A"
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      "proteinEffect": {
        "hgvs": "XP_016862566.1:p.Tyr39Ter",
        "hgvsWellDefined": "XP_016862566.1:p.Tyr39_Ile475delinsIleSerIleLeuPheAlaIleSerValPheGlyProAlaPheGlyTyrLeuLeuGlySerValMetLeuGlnIlePheValAspTyrGlyArgValAsnThrAlaAlaValAsnLeuValProGlyAspProArgTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561935"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
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      ],
      "gene": "http://reg.genome.network/gene/GN010955",
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      "proteinEffect": {
        "hgvs": "XP_024309489.1:p.Tyr207Ter",
        "hgvsWellDefined": "XP_024309489.1:p.Tyr207_Thr587delinsIleSerIleLeuPheAlaIleSerValPheGlyProAlaPheGlyTyrLeuLeuGlySerValMetLeuGlnIlePheValAspTyrGlyArgValAsnThrAlaAlaValAsnLeuValProGlyAspProArgTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuValSerGlnProArgThrProSerSerSerLeuLysSerGlyHisProHisLeuGlyAlaSerValArgThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587096"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499271569",
      "coordinates": [
        {
          "allele": "A",
          "end": 744,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN010955",
      "geneNCBI_id": 6578,
      "geneSymbol": "SLCO2A1",
      "hgvs": [
        "NM_005630.3:c.621C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005621.2:p.Tyr207Ter",
        "hgvsWellDefined": "NP_005621.2:p.Tyr207_Ile643delinsIleSerIleLeuPheAlaIleSerValPheGlyProAlaPheGlyTyrLeuLeuGlySerValMetLeuGlnIlePheValAspTyrGlyArgValAsnThrAlaAlaValAsnLeuValProGlyAspProArgTrpIleGlyAlaTrpTrpLeuGlyLeuLeuIleSerSerAlaLeuLeuValLeuThrSerPheProPhePhePhePheProArgAlaMetProIleGlyAlaLysArgAlaProAlaThrAlaAspGluAlaArgLysLeuGluGluAlaLysSerArgGlySerLeuValAspPheIleLysArgPheProCysIlePheLeuArgLeuLeuMetAsnSerLeuPheValLeuValValLeuAlaGlnCysThrPheSerSerValIleAlaGlyLeuSerThrPheLeuAsnLysPheLeuGluLysGlnTyrGlyThrSerAlaAlaTyrAlaAsnPheLeuIleGlyAlaValAsnLeuProAlaAlaAlaLeuGlyMetLeuPheGlyGlyIleLeuMetLysArgPheValPheSerLeuGlnAlaIleProArgIleAlaThrThrIleIleThrIleSerMetIleLeuCysValProLeuPhePheMetGlyCysSerThrProThrValAlaGluValTyrProProSerThrSerSerSerIleHisProGlnSerProAlaCysArgArgAspCysSerCysProAspSerIlePheHisProValCysGlyAspAsnGlyIleGluTyrLeuSerProCysHisAlaGlyCysSerAsnIleAsnMetSerSerAlaThrSerLysGlnLeuIleTyrLeuAsnCysSerCysValThrGlyGlySerAlaSerAlaLysThrGlySerCysProValProCysAlaHisPheLeuLeuProAlaIlePheLeuIleSerPheValSerLeuIleAlaCysIleSerHisAsnProLeuTyrMetMetValLeuArgValValAsnGlnGluGluLysSerPheAlaIleGlyValGlnPheLeuLeuMetArgLeuLeuAlaTrpLeuProSerProAlaLeuTyrGlyLeuThrIleAspHisSerCysIleArgTrpAsnSerLeuCysLeuGlyArgArgGlyAlaCysAlaTyrTyrAspAsnAspAlaLeuArgAspArgTyrLeuGlyLeuGlnMetGlyTyrLysAlaLeuGlyMetLeuLeuLeuCysPheIleSerTrpArgValLysLysAsnLysGluTyrAsnValGlnLysAlaAlaGlyLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696476",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000310926.11:c.621C>A"
          },
          "RefSeq": {
            "hgvs": "NM_005630.3:c.621C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000311291.4:p.Tyr207Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005621.2:p.Tyr207Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}