{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA130771",
  "communityStandardTitle": [
    "NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16113[alleleid]",
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        "preferredName": "NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074",
        "RCV": [
          "RCV000033207",
          "RCV000779628",
          "RCV000762961",
          "RCV000790748",
          "RCV001059320",
          "RCV001831501",
          "RCV004017218"
        ],
        "variationId": 1074
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-53679606-G-A",
        "id": "16-53679606-G-A",
        "variant": "16:53679606 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53679606G>A?assembly=hg19",
        "id": "chr16:g.53679606G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.53645694G>A?assembly=hg38",
        "id": "chr16:g.53645694G>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/121918203",
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      {
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        "id": "16-53679606-G-A",
        "variant": "16:53679606 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-53645694-G-A?dataset=gnomad_r3",
        "id": "16-53645694-G-A",
        "variant": "16:53645694 G / A"
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    "gnomAD_4": [
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        "@id": "http://gnomad.broadinstitute.org/variant/16-53645694-G-A?dataset=gnomad_r4",
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      }
    ]
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      "chromosome": "16",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "16",
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    },
    {
      "chromosome": "16",
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      "referenceSequence": "http://reg.genome.network/refseq/RS001362"
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      "referenceSequence": "http://reg.genome.network/refseq/RS762332"
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS378050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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    },
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        {
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          "end": 2678,
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS011708"
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      "referenceSequence": "http://reg.genome.network/refseq/RS026290"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2658,
          "referenceAllele": "C",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS573912"
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        {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS676952"
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      "@id": "http://reg.genome.network/allele/PA2827321775",
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          "allele": "T",
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001317467.1:p.Gln872Ter",
        "hgvsWellDefined": "NP_001317467.1:p.Gln872_Ala1281delinsGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnSerLeuAlaLeuSerProGlyLeuGlyCysSerSerAlaIleSerAlaHisCysAsnPheArgLeuProGlySerSerAspPheProAlaSerAlaSerGlnValAspGlyIleThrGlyAlaCysHisHisThrGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826934498",
      "coordinates": [
        {
          "allele": "T",
          "end": 2678,
          "referenceAllele": "C",
          "start": 2677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029168",
      "geneNCBI_id": 23322,
      "geneSymbol": "RPGRIP1L",
      "hgvs": [
        "NM_001308334.3:c.2614C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295263.1:p.Gln872Ter",
        "hgvsWellDefined": "NP_001295263.1:p.Gln872_Ala1269delinsGluAsnIleTyrIleGlyLysValAsnValProLeuIleSerLeuAlaHisAspArgCysIleSerGlyIlePheGluLeuThrAspHisGlnLysHisProAlaGlyThrIleHisValIleLeuLysTrpLysPheAlaTyrLeuProProSerGlySerIleThrThrGluAspLeuGlyAsnPheIleArgSerGluGluProGluValValGlnArgLeuProProAlaSerSerValSerThrLeuValLeuAlaProArgProLysProArgGlnArgLeuThrProValAspLysLysValSerPheValAspIleMetProHisGlnSerAspGluThrSerProProProGluAspArgLysGluIleSerProGluValGluHisIleProGluIleGluIleAsnMetLeuThrValProHisValProLysValSerGlnGluGlySerValAspGluValLysGluAsnThrGluLysMetGlnGlnGlyLysAspAspValSerLeuLeuSerGluGlyGlnLeuAlaGluGlnSerLeuAlaSerSerGluAspGluThrGluIleThrGluAspLeuGluProGluValGluGluAspMetSerAlaSerAspSerAspAspCysIleIleProGlyProIleSerLysAsnIleLysGlnProSerGluLysIleArgIleGluIleIleAlaLeuSerLeuAsnAspSerGlnValThrMetAspAspThrIleGlnArgLeuPheValGluCysArgPheTyrSerLeuProAlaGluGluThrProValSerLeuProLysProLysSerGlyGlnTrpValTyrTyrAsnTyrSerAsnValIleTyrValAspLysGluAsnAsnLysAlaLysArgAspIleLeuLysAlaIleLeuGlnLysGlnGluMetProAsnArgSerLeuArgPheThrValValSerAspProProGluAspGluGlnAspLeuGluCysGluAspIleGlyValAlaHisValAspLeuAlaAspMetPheGlnGluGlyArgAspLeuIleGluGlnAsnIleAspValPheAspAlaArgAlaAspGlyGluGlyIleGlyLysLeuArgValThrValGluAlaLeuHisAlaLeuGlnSerValTyrLysGlnTyrArgAspAspLeuGluAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717273"
    }
  ],
  "type": "nucleotide"
}