{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277776",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214283[alleleid]",
        "alleleId": 214283,
        "preferredName": "NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217724",
        "RCV": [
          "RCV000201701",
          "RCV001536330",
          "RCV001853243"
        ],
        "variationId": 217724
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-94798513-C-T",
        "id": "8-94798513-C-T",
        "variant": "8:94798513 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94798513C>T?assembly=hg19",
        "id": "chr8:g.94798513C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93786285C>T?assembly=hg38",
        "id": "chr8:g.93786285C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/116647652",
        "rs": 116647652
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94798513-C-T?dataset=gnomad_r2_1",
        "id": "8-94798513-C-T",
        "variant": "8:94798513 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93786285-C-T?dataset=gnomad_r3",
        "id": "8-93786285-C-T",
        "variant": "8:93786285 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93786285-C-T?dataset=gnomad_r4",
        "id": "8-93786285-C-T",
        "variant": "8:93786285 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 93786285,
          "referenceAllele": "C",
          "start": 93786284
        }
      ],
      "hgvs": [
        "NC_000008.11:g.93786285C>T",
        "CM000670.2:g.93786285C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 94798513,
          "referenceAllele": "C",
          "start": 94798512
        }
      ],
      "hgvs": [
        "NC_000008.10:g.94798513C>T",
        "CM000670.1:g.94798513C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 94867689,
          "referenceAllele": "C",
          "start": 94867688
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94867689C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 36442,
          "referenceAllele": "C",
          "start": 36441
        }
      ],
      "hgvs": [
        "NG_009190.1:g.36442C>T",
        "LRG_688:g.36442C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
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      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.1351C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000314488.4:p.Arg451Ter",
        "hgvsWellDefined": "ENSP00000314488.4:p.Arg451_Ile995delinsGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.8:c.1306C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.4:p.Arg436Ter",
        "hgvsWellDefined": "ENSP00000386966.4:p.Arg436_Ile980delinsGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000388671.2:p.Arg451_Ile956delinsGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000403035.2:p.Arg157_Ile701delinsGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1356,
          "referenceAllele": "C",
          "start": 1355
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000520680.2:c.1351C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000428785.2:p.Arg451_Ile1036delinsGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspThrGluPheCysThrCysCysProGlyTrpSerAlaMetAlaArgSerTrpLeuThrAlaThrSerAlaSerArgValGlnAlaIleLeuLeuSerGlnProProGluTyrLeuGlyLeuGlnIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1351,
          "referenceAllele": "C",
          "start": 1350
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000430740.2:p.Arg451Ter",
        "hgvsWellDefined": "ENSP00000430740.2:p.Arg451_Ile962delinsGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1172,
          "referenceAllele": "C",
          "start": 1171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000681998.1:c.1172C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506773.1:n.1172C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
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      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
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        "maneVersion": "1.3",
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          "RefSeq": {
            "hgvs": "NM_153704.6:c.1351C>T"
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        }
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          "start": 1338
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      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS301555"
    },
    {
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        {
          "allele": "T",
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          "start": 1408
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS302328"
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    {
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          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
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      "referenceSequence": "http://reg.genome.network/refseq/RS347671"
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    {
      "@id": "http://reg.genome.network/allele/PA277779",
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
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          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
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      "hgvs": [
        "NM_001142301.1:c.1108C>T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277780",
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
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      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Arg451Ter",
        "hgvsWellDefined": "NP_714915.3:p.Arg451_Ile995delinsGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1351C>T"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1351C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Arg451Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Arg451Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1372,
          "referenceAllele": "C",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.1372C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}