{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347176795",
  "communityStandardTitle": [
    "NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3426641",
        "active": true,
        "id": "COSM3426641"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1314136[alleleid]",
        "alleleId": 1314136,
        "preferredName": "NM_001692.4(ATP6V1B1):c.67C>T (p.Arg23Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1323856",
        "RCV": [
          "RCV001785889",
          "RCV003728007"
        ],
        "variationId": 1323856
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71163151C>T?assembly=hg19",
        "id": "chr2:g.71163151C>T"
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        "@id": "http://myvariant.info/v1/variant/chr2:g.70936021C>T?assembly=hg38",
        "id": "chr2:g.70936021C>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553415274",
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      "referenceGenome": "NCBI36",
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      "coordinates": [
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    }
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      "referenceSequence": "http://reg.genome.network/refseq/RS755411"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000408361.2:p.Arg23_Glu310del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS756466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 79,
          "endIntronDirection": "-",
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          "startIntronOffset": 3397
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      "gene": "http://reg.genome.network/gene/GN012661",
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      "referenceSequence": "http://reg.genome.network/refseq/RS769064"
    },
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          "start": 139
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS248918"
    },
    {
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          "start": 100
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282553"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "ENST00000432367.5:c.67C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405114.1:p.Arg23Ter",
        "hgvsWellDefined": "ENSP00000405114.1:p.Arg23_Val248delinsGluHisMetGlnAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValArgArgLeuSerArgLeuAlaSerGluHisGlyAspSerGlnIleLeuGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292056"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080821",
      "coordinates": [
        {
          "allele": "T",
          "end": 154,
          "referenceAllele": "C",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
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      "hgvs": [
        "NM_001692.3:c.67C>T"
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      "proteinEffect": {
        "hgvs": "NP_001683.2:p.Arg23Ter",
        "hgvsWellDefined": "NP_001683.2:p.Arg23_Leu513delinsGluHisMetGlnAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573080821",
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "referenceAllele": "C",
          "start": 121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000853",
      "geneNCBI_id": 525,
      "geneSymbol": "ATP6V1B1",
      "hgvs": [
        "NM_001692.4:c.67C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001683.2:p.Arg23Ter",
        "hgvsWellDefined": "NP_001683.2:p.Arg23_Leu513delinsGluHisMetGlnAlaValThrArgAsnTyrIleThrHisProArgValThrTyrArgThrValCysSerValAsnGlyProLeuValValLeuAspArgValLysPheAlaGlnTyrAlaGluIleValHisPheThrLeuProAspGlyThrGlnArgSerGlyGlnValLeuGluValAlaGlyThrLysAlaIleValGlnValPheGluGlyThrSerGlyIleAspAlaArgLysThrThrCysGluPheThrGlyAspIleLeuArgThrProValSerGluAspMetLeuGlyArgValPheAsnGlySerGlyLysProIleAspLysGlyProValValMetAlaGluAspPheLeuAspIleAsnGlyGlnProIleAsnProHisSerArgIleTyrProGluGluMetIleGlnThrGlyIleSerProIleAspValMetAsnSerIleAlaArgGlyGlnLysIleProIlePheSerAlaAlaGlyLeuProHisAsnGluIleAlaAlaGlnIleCysArgGlnAlaGlyLeuValLysLysSerLysAlaValLeuAspTyrHisAspAspAsnPheAlaIleValPheAlaAlaMetGlyValAsnMetGluThrAlaArgPhePheLysSerAspPheGluGlnAsnGlyThrMetGlyAsnValCysLeuPheLeuAsnLeuAlaAsnAspProThrIleGluArgIleIleThrProArgLeuAlaLeuThrThrAlaGluPheLeuAlaTyrGlnCysGluLysHisValLeuValIleLeuThrAspMetSerSerTyrAlaGluAlaLeuArgGluValSerAlaAlaArgGluGluValProGlyArgArgGlyPheProGlyTyrMetTyrThrAspLeuAlaThrIleTyrGluArgAlaGlyArgValGluGlyArgGlyGlySerIleThrGlnIleProIleLeuThrMetProAsnAspAspIleThrHisProIleProAspLeuThrGlyPheIleThrGluGlyGlnIleTyrValAspArgGlnLeuHisAsnArgGlnIleTyrProProIleAsnValLeuProSerLeuSerArgLeuMetLysSerAlaIleGlyGluGlyMetThrArgLysAspHisGlyAspValSerAsnGlnLeuTyrAlaCysTyrAlaIleGlyLysAspValGlnAlaMetLysAlaValValGlyGluGluAlaLeuThrSerGluAspLeuLeuTyrLeuGluPheLeuGlnLysPheGluLysAsnPheIleAsnGlnGlyProTyrGluAsnArgSerValPheGluSerLeuAspLeuGlyTrpLysLeuLeuArgIlePheProLysGluMetLeuLysArgIleProGlnAlaValIleAspGluPheTyrSerArgGluGlyAlaLeuGlnAspLeuAlaProAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524901",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000234396.10:c.67C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001692.4:c.67C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000234396.4:p.Arg23Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001683.2:p.Arg23Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}