{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044028",
  "communityStandardTitle": [
    "NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4856776",
        "active": true,
        "id": "COSM4856776"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362047[alleleid]",
        "alleleId": 362047,
        "preferredName": "NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375276",
        "RCV": [
          "RCV000416337"
        ],
        "variationId": 375276
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.3193402C>T?assembly=hg19",
        "id": "chr19:g.3193402C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.3193404C>T?assembly=hg38",
        "id": "chr19:g.3193404C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519322",
        "rs": 1057519322
      }
    ]
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "19",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
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      "referenceGenome": "NCBI36",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 279,
          "endIntronDirection": "-",
          "endIntronOffset": 2778,
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          "startIntronDirection": "-",
          "startIntronOffset": 2779
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      ],
      "gene": "http://reg.genome.network/gene/GN026923",
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467011.1:n.185-2779C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS390765"
    },
    {
      "coordinates": [
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          "allele": "T",
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      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS392355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481884",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062484"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827110464",
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        {
          "allele": "T",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645481884",
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        {
          "allele": "T",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_064555.2:p.Gln166_Gln563delinsGlySerAlaSerAlaAlaGluValLeuLeuArgThrAlaThrAlaAsnGlyPheGlnMetValThrSerGlyValGlnSerLysAlaValSerAspTrpLeuIleAlaSerValGluGlyArgLeuThrGlyLeuGlyGlyGluAspLeuProThrIleValIleValAlaHisTyrAspAlaPheGlyValAlaProTrpLeuSerLeuGlyAlaAspSerAsnGlySerGlyValSerValLeuLeuGluLeuAlaArgLeuPheSerArgLeuTyrThrTyrLysArgThrHisAlaAlaTyrAsnLeuLeuPhePheAlaSerGlyGlyGlyLysPheAsnTyrGlnGlyThrLysArgTrpLeuGluAspAsnLeuAspHisThrAspSerSerLeuLeuGlnAspAsnValAlaPheValLeuCysLeuAspThrValGlyArgGlySerSerLeuHisLeuHisValSerLysProProArgGluGlyThrLeuGlnHisAlaPheLeuArgGluLeuGluThrValAlaAlaHisGlnPheProGluValArgPheSerMetValHisLysArgIleAsnLeuAlaGluAspValLeuAlaTrpGluHisGluArgPheAlaIleArgArgLeuProAlaPheThrLeuSerHisLeuGluSerHisArgAspGlyGlnArgSerSerIleMetAspValArgSerArgValAspSerLysThrLeuThrArgAsnThrArgIleIleAlaGluAlaLeuThrArgValIleTyrAsnLeuThrGluLysGlyThrProProAspMetProValPheThrGluGlnMetGlnIleGlnGlnGluGlnLeuAspSerValMetAspTrpLeuThrAsnGlnProArgAlaAlaGlnLeuValAspLysAspSerThrPheLeuSerThrLeuGluHisHisLeuSerArgTyrLeuLysAspValLysGlnHisHisValLysAlaAspLysArgAspProGluPheValPheTyrAspGlnLeuLysGlnValMetAsnAlaTyrArgValLysProAlaValPheAspLeuLeuLeuAlaValGlyIleAlaAlaTyrLeuGlyMetAlaTyrValAlaValGlnHisPheSerLeuLeuTyrLysThrValGlnArgLeuLeuValLysAlaLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669910",
      "MANE": {
        "maneVersion": "1.3",
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          "RefSeq": {
            "hgvs": "NM_020170.4:c.496C>T"
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        },
        "protein": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NP_064555.2:p.Gln166Ter"
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        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827110464",
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN026923",
      "geneNCBI_id": 56926,
      "geneSymbol": "NCLN",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001308392.1:p.Gln166Ter",
        "hgvsWellDefined": "NP_001308392.1:p.Gln166_Gln562delinsGlySerAlaSerAlaAlaGluValLeuLeuArgThrAlaThrAlaAsnGlyPheGlnMetValThrSerGlyValGlnSerLysAlaValSerAspTrpLeuIleAlaSerValGluGlyArgLeuThrGlyLeuGlyGlyGluAspLeuProThrIleValIleValAlaHisTyrAspAlaPheGlyValAlaProTrpLeuSerLeuGlyAlaAspSerAsnGlySerGlyValSerValLeuLeuGluLeuAlaArgLeuPheSerArgLeuTyrThrTyrLysArgThrHisAlaAlaTyrAsnLeuLeuPhePheAlaSerGlyGlyGlyLysPheAsnTyrGlnGlyThrLysArgTrpLeuGluAspAsnLeuAspHisThrAspSerSerLeuLeuGlnAspAsnValAlaPheValLeuCysLeuAspThrValGlyArgGlySerSerLeuHisLeuHisValSerLysProProArgGluGlyThrLeuGlnHisAlaPheLeuArgGluLeuGluThrValAlaAlaHisGlnPheProGluValArgPheSerMetValHisLysArgIleAsnLeuAlaGluAspValLeuAlaTrpGluHisGluArgPheAlaIleArgArgLeuProAlaPheThrLeuSerHisLeuGluSerHisArgAspGlyGlnArgSerSerIleMetAspValArgSerArgValAspSerLysThrLeuThrArgAsnThrArgIleIleAlaGluAlaLeuThrArgValIleTyrAsnLeuThrGluLysGlyThrProProAspMetProValPheThrGluGlnMetIleGlnGlnGluGlnLeuAspSerValMetAspTrpLeuThrAsnGlnProArgAlaAlaGlnLeuValAspLysAspSerThrPheLeuSerThrLeuGluHisHisLeuSerArgTyrLeuLysAspValLysGlnHisHisValLysAlaAspLysArgAspProGluPheValPheTyrAspGlnLeuLysGlnValMetAsnAlaTyrArgValLysProAlaValPheAspLeuLeuLeuAlaValGlyIleAlaAlaTyrLeuGlyMetAlaTyrValAlaValGlnHisPheSerLeuLeuTyrLysThrValGlnArgLeuLeuValLysAlaLysThrGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685347"
    }
  ],
  "type": "nucleotide"
}