{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA262093",
  "communityStandardTitle": [
    "NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=903825",
        "active": true,
        "id": "COSM903825"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4231124",
        "active": true,
        "id": "COSM4231124"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57611[alleleid]",
        "alleleId": 57611,
        "preferredName": "NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48449",
        "RCV": [
          "RCV000041772",
          "RCV000671978",
          "RCV001852859",
          "RCV000787726",
          "RCV003450802",
          "RCV003114221",
          "RCV003450801"
        ],
        "variationId": 48449
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.215813957G>A?assembly=hg19",
        "id": "chr1:g.215813957G>A"
      }
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        "@id": "http://gnomad.broadinstitute.org/variant/1-215640615-G-A?dataset=gnomad_r4",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "1",
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      "referenceGenome": "GRCh37",
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      "chromosome": "1",
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      "referenceGenome": "NCBI36",
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      "geneSymbol": "USH2A",
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      "referenceSequence": "http://reg.genome.network/refseq/RS745360",
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    {
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774106"
    },
    {
      "coordinates": [
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255872"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262094",
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      ],
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        "hgvsWellDefined": "NP_996816.2:p.Arg4972_Leu5202delinsValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045339"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262094",
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_996816.2:p.Arg4972_Leu5202delinsValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673266"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139765425",
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN012601",
      "geneNCBI_id": 7399,
      "geneSymbol": "USH2A",
      "hgvs": [
        "NM_206933.4:c.14911C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_996816.3:p.Arg4971Ter",
        "hgvsWellDefined": "NP_996816.3:p.Arg4972_Leu5202delinsValTyrSerGlyLeuAspThrThrLeuTyrIleProArgThrAlaAspLysThrPhePhePheGlnValIleCysThrThrAspGluGlySerValLysThrProLeuIleGlnTyrAspThrSerThrGlyLeuGlyLeuValLeuThrThrProGlyLysLysLysGlySerArgSerLysSerThrGluPheTyrSerGluLeuTrpPheIleValLeuMetAlaMetLeuGlyLeuIleLeuLeuAlaIlePheLeuSerLeuIleLeuGlnArgLysIleHisLysGluProTyrIleArgGluArgProProLeuValProLeuGlnLysArgMetSerProLeuAsnValTyrProProGlyGluAsnHisMetGlyLeuAlaAspThrLysIleProArgSerGlyThrProValSerIleArgSerAsnArgSerAlaCysValLeuArgIleProSerGlnAsnGlnThrSerLeuThrTyrSerGlnGlySerLeuHisArgSerValSerGlnLeuMetAspIleGlnAspLysLysValLeuMetAspAsnSerLeuTrpGluAlaIleMetGlyHisAsnSerGlyLeuTyrValAspGluGluAspLeuMetAsnAlaIleLysAspPheSerSerValThrLysGluArgThrThrPheThrAspThrHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701702",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000307340.8:c.14911C>T"
          },
          "RefSeq": {
            "hgvs": "NM_206933.4:c.14911C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305941.3:p.Arg4971Ter"
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          "RefSeq": {
            "hgvs": "NP_996816.3:p.Arg4971Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}