{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347176822",
  "communityStandardTitle": [
    "NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976081[alleleid]",
        "alleleId": 976081,
        "preferredName": "NM_001692.4(ATP6V1B1):c.79C>T (p.Gln27Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988216",
        "RCV": [
          "RCV001328240",
          "RCV003558784"
        ],
        "variationId": 988216
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71163163C>T?assembly=hg19",
        "id": "chr2:g.71163163C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.70936033C>T?assembly=hg38",
        "id": "chr2:g.70936033C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1288346981",
        "rs": 1288346981
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    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-70936033-C-T?dataset=gnomad_r3",
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        "variant": "2:70936033 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-70936033-C-T?dataset=gnomad_r4",
        "id": "2-70936033-C-T",
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    ]
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      "chromosome": "2",
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        {
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "2",
      "coordinates": [
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      "referenceGenome": "NCBI36",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000776"
    }
  ],
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          "endIntronDirection": "-",
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          "startIntronOffset": 7625
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS755411"
    },
    {
      "coordinates": [
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000408361.2:p.Gln27_Glu310del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS756466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "endIntronDirection": "-",
          "endIntronOffset": 3384,
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          "startIntronDirection": "-",
          "startIntronOffset": 3385
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      ],
      "gene": "http://reg.genome.network/gene/GN012661",
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      "referenceSequence": "http://reg.genome.network/refseq/RS769064"
    },
    {
      "coordinates": [
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          "allele": "T",
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          "start": 151
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000234396.4:p.Gln27_Leu513delinsAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248918"
    },
    {
      "coordinates": [
        {
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          "start": 112
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      ],
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      "geneSymbol": "ATP6V1B1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000388353.1:p.Gln27_Leu496delinsAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000432367.5:c.79C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405114.1:p.Gln27Ter",
        "hgvsWellDefined": "ENSP00000405114.1:p.Gln27_Val248delinsAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValArgArgLeuSerArgLeuAlaSerGluHisGlyAspSerGlnIleLeuGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499258665",
      "coordinates": [
        {
          "allele": "T",
          "end": 166,
          "referenceAllele": "C",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NM_001692.3:c.79C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001683.2:p.Gln27Ter",
        "hgvsWellDefined": "NP_001683.2:p.Gln27_Leu513delinsAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499258665",
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "C",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NM_001692.4:c.79C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001683.2:p.Gln27Ter",
        "hgvsWellDefined": "NP_001683.2:p.Gln27_Leu513delinsAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234396.10:c.79C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001692.4:c.79C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234396.4:p.Gln27Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001683.2:p.Gln27Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}