{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA279340",
  "communityStandardTitle": [
    "NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=214279[alleleid]",
        "alleleId": 214279,
        "preferredName": "NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/217728",
        "RCV": [
          "RCV000201527"
        ],
        "variationId": 217728
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.94794638G>T?assembly=hg19",
        "id": "chr8:g.94794638G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.93782410G>T?assembly=hg38",
        "id": "chr8:g.93782410G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/863225237",
        "rs": 863225237
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-94794638-G-T?dataset=gnomad_r2_1",
        "id": "8-94794638-G-T",
        "variant": "8:94794638 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-93782410-G-T?dataset=gnomad_r4",
        "id": "8-93782410-G-T",
        "variant": "8:93782410 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 93782410,
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      ],
      "hgvs": [
        "NC_000008.11:g.93782410G>T",
        "CM000670.2:g.93782410G>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
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          "end": 94794638,
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          "start": 94794637
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      ],
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        "CM000670.1:g.94794638G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 94863814,
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          "start": 94863813
        }
      ],
      "hgvs": [
        "NC_000008.9:g.94863814G>T"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
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      ],
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        "NG_009190.1:g.32567G>T",
        "LRG_688:g.32567G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001468"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.8:c.1081G>T"
      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS823873"
    },
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      "coordinates": [
        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS824612"
    },
    {
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        {
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS825032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "endIntronDirection": "-",
          "endIntronOffset": 3812,
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS825660"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS825666"
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      "referenceSequence": "http://reg.genome.network/refseq/RS825670"
    },
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS826997"
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    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS829371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "G",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000684540.1:c.1011G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507987.1:n.1011G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
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      "hgvs": [
        "ENST00000453321.8:c.1081G>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000389998.3:p.Glu361_Ile995delinsThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756420",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1081G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1081G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Glu361Ter"
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          "RefSeq": {
            "hgvs": "NP_714915.3:p.Glu361Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1069,
          "referenceAllele": "G",
          "start": 1068
        }
      ],
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      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000323130.7:c.1051G>T"
      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1040,
          "referenceAllele": "G",
          "start": 1039
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000409623.7:c.838G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386966.3:p.Glu280Ter",
        "hgvsWellDefined": "ENSP00000386966.3:p.Glu280_Ile914delinsThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000425545.2:n.528G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1042,
          "referenceAllele": "G",
          "start": 1041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000452276.5:c.772G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388671.1:p.Glu258Ter",
        "hgvsWellDefined": "ENSP00000388671.1:p.Glu258_Ala397del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS301555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1139,
          "referenceAllele": "G",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453321.7:c.1081G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389998.3:p.Glu361Ter",
        "hgvsWellDefined": "ENSP00000389998.3:p.Glu361_Ile995delinsThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 3812,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 3813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "ENST00000453906.5:c.407-3813G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403035.1:n.407-3813G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 3812,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 3813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
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      "hgvs": [
        "ENST00000474944.5:n.427-3813G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279343",
      "coordinates": [
        {
          "allele": "T",
          "end": 1083,
          "referenceAllele": "G",
          "start": 1082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_001142301.1:c.838G>T",
        "LRG_688t2:c.838G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001135773.1:p.Glu280Ter",
        "hgvsWellDefined": "NP_001135773.1:p.Glu280_Ile914delinsThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA279344",
      "coordinates": [
        {
          "allele": "T",
          "end": 1152,
          "referenceAllele": "G",
          "start": 1151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NM_153704.5:c.1081G>T",
        "LRG_688t1:c.1081G>T"
      ],
      "proteinEffect": {
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      "proteinEffect": {
        "hgvs": "NP_714915.3:p.Glu361Ter",
        "hgvsWellDefined": "NP_714915.3:p.Glu361_Ile995delinsThrArgLeuAsnAlaAlaTyrSerPheGlyThrThrTyrGlnGlnAsnCysGluIleProIleSerLysIleLeuIleAspPheProThrProIlePheTyrAspValTyrLeuGluTyrThrAspGluAsnGlnHisGlnTyrIleLeuAlaValProValLeuAsnLeuAsnLeuGlnHisAsnLysIlePheValAsnGlnAspSerAsnSerGlyLysTrpLeuLeuThrArgArgIlePheLeuValAspAlaValSerGlyArgGluAsnAspLeuGlyThrGlnProArgValIleArgValAlaThrGlnIleSerLeuSerValHisLeuValProAsnThrIleAsnGlyAsnIleTyrProProLeuIleThrIleAlaTyrSerAspIleAspIleLysAspAlaAsnSerGlnSerValLysValSerPheSerValThrTyrGluMetAspHisGlyGluAlaHisValGlnThrAspIleAlaLeuGlyValLeuGlyGlyLeuAlaValLeuAlaSerLeuLeuLysThrAlaGlyTrpLysArgArgIleGlySerProMetIleAspLeuGlnThrValValLysPheLeuValTyrTyrAlaGlyAspLeuAlaAsnValPhePheIleIleThrValGlyThrGlyLeuTyrTrpLeuIlePhePheLysAlaGlnLysSerValSerValLeuLeuProMetProIleGlnGluGluArgPheValThrTyrValGlyCysAlaPheAlaLeuLysAlaLeuGlnPheLeuHisLysLeuIleSerGlnIleThrIleAspValPhePheIleAspTrpGluArgProLysGlyLysValLeuLysAlaValGluGlyGluGlyGlyValArgSerAlaThrValProValSerIleTrpArgThrTyrPheValAlaAsnGluTrpAsnGluIleGlnThrValArgLysIleAsnSerLeuPheGlnValLeuThrValLeuPhePheLeuGluValValGlyPheLysAsnLeuAlaLeuMetAspSerSerSerSerLeuSerArgAsnProProSerTyrIleAlaProTyrSerCysIleLeuArgTyrAlaValSerAlaAlaLeuTrpLeuAlaIleGlyIleIleGlnValValPhePheAlaValPheTyrGluArgPheIleGluAspLysIleArgGlnPheValAspLeuCysSerMetSerAsnIleSerValPheLeuLeuSerHisLysCysPheGlyTyrTyrIleHisGlyArgSerValHisGlyHisAlaAspThrAsnMetGluGluMetAsnMetAsnLeuLysArgGluAlaGluAsnLeuCysSerGlnArgGlyLeuValProAsnThrAspGlyGlnThrPheGluIleAlaIleSerAsnGlnMetArgGlnHisTyrAspArgIleHisGluThrLeuIleArgLysAsnGlyProAlaArgLeuLeuSerSerSerAlaSerThrPheGluGlnSerIleLysAlaTyrHisMetMetAsnLysPheLeuGlySerPheIleAspHisValHisLysGluMetAspTyrPheIleLysAspLysLeuLeuLeuGluArgIleLeuGlyMetGluPheMetGluProMetGluLysSerIlePheTyrAsnAspGluGlyTyrSerPheSerSerValLeuTyrTyrGlyAsnGluAlaThrLeuLeuIlePheAspLeuLeuPhePheCysValValAspLeuAlaCysGlnAsnPheIleLeuAlaSerPheLeuThrTyrLeuGlnGlnGluIlePheArgTyrIleArgAsnThrValGlyGlnLysAsnLeuAlaSerLysThrLeuValAspGlnArgPheLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000453321.8:c.1081G>T"
          },
          "RefSeq": {
            "hgvs": "NM_153704.6:c.1081G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000389998.3:p.Glu361Ter"
          },
          "RefSeq": {
            "hgvs": "NP_714915.3:p.Glu361Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1102,
          "referenceAllele": "G",
          "start": 1101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NR_024522.2:n.1102G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701872"
    }
  ],
  "type": "nucleotide"
}