{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1023900",
  "communityStandardTitle": [
    "NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=626677[alleleid]",
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      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/654552",
        "RCV": [
          "RCV002537337"
        ],
        "variationId": 654552
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-116280902-C-A",
        "id": "1-116280902-C-A",
        "variant": "1:116280902 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.116280902C>A?assembly=hg19",
        "id": "chr1:g.116280902C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115738281C>A?assembly=hg38",
        "id": "chr1:g.115738281C>A"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375598471",
        "rs": 375598471
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    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-116280902-C-A?dataset=gnomad_r2_1",
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        "variant": "1:116280902 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115738281-C-A?dataset=gnomad_r4",
        "id": "1-115738281-C-A",
        "variant": "1:115738281 C / A"
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    ]
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          "start": 115738280
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      ],
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        "CM000663.2:g.115738281C>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
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          "end": 116082425,
          "referenceAllele": "C",
          "start": 116082424
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      ],
      "hgvs": [
        "NC_000001.9:g.116082425C>A"
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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          "end": 35525,
          "referenceAllele": "G",
          "start": 35524
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      ],
      "hgvs": [
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        "LRG_404:g.35525G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001221"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 471,
          "referenceAllele": "G",
          "start": 470
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      ],
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      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000518226.1:p.Glu67_Leu148delinsArgIleGluAspTyrIleLysLeuIleGlyPhePheLysSerGluAspSerGluTyrTyrLysAlaPheGluGluAlaAlaGluHisPheGlnProTyrIleLysPhePheAlaThrPheAspLysGlyValLeuTrpLeuThrProValIleProThrLeuTrpGluAlaAspGlyGlyGlyLeuHisGluProTrpSerTrpArgProAlaTrpAlaThrTrpLeuGlnArgAsnTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914156"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000261448.5:p.Glu159_Glu399delinsArgIleGluAspTyrIleLysLeuIleGlyPhePheLysSerGluAspSerGluTyrTyrLysAlaPheGluGluAlaAlaGluHisPheGlnProTyrIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742143",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
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          },
          "RefSeq": {
            "hgvs": "NM_001232.4:c.475G>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000261448.5:p.Glu159Ter"
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          "RefSeq": {
            "hgvs": "NP_001223.2:p.Glu159Ter"
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    {
      "coordinates": [
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      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915971614",
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN001513",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915971614",
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001223.2:p.Glu159_Glu399delinsArgIleGluAspTyrIleLysLeuIleGlyPhePheLysSerGluAspSerGluTyrTyrLysAlaPheGluGluAlaAlaGluHisPheGlnProTyrIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261448.6:c.475G>T"
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          "RefSeq": {
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261448.5:p.Glu159Ter"
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          "RefSeq": {
            "hgvs": "NP_001223.2:p.Glu159Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}