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  "@id": "http://reg.genome.network/allele/CA341768994",
  "communityStandardTitle": [
    "NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1401589[alleleid]",
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        "preferredName": "NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1367739",
        "RCV": [
          "RCV002482548",
          "RCV002550401",
          "RCV003339773"
        ],
        "variationId": 1367739
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.116275552G>T?assembly=hg19",
        "id": "chr1:g.116275552G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115732931G>T?assembly=hg38",
        "id": "chr1:g.115732931G>T"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/758748280",
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    "gnomAD_2": [
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        "id": "1-116275552-G-T",
        "variant": "1:116275552 G / T"
      }
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    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115732931-G-T?dataset=gnomad_r3",
        "id": "1-115732931-G-T",
        "variant": "1:115732931 G / T"
      }
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    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115732931-G-T?dataset=gnomad_r4",
        "id": "1-115732931-G-T",
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      "chromosome": "1",
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          "start": 115732930
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        "CM000663.2:g.115732931G>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "referenceAllele": "G",
          "start": 116275551
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 116077075,
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          "start": 116077074
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      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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          "end": 40875,
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          "start": 40874
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      ],
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        "LRG_404:g.40875C>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001221"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 572,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000488931.2:c.300C>A"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000518226.1:p.Tyr100_Leu148delinsIleLysPhePheAlaThrPheAspLysGlyValLeuTrpLeuThrProValIleProThrLeuTrpGluAlaAspGlyGlyGlyLeuHisGluProTrpSerTrpArgProAlaTrpAlaThrTrpLeuGlnArgAsnTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914156"
    },
    {
      "coordinates": [
        {
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          "start": 748
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      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000261448.6:c.576C>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000261448.5:p.Tyr192_Glu399delinsIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_001232.4:c.576C>A"
          }
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        "protein": {
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          "RefSeq": {
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    {
      "coordinates": [
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          "start": 815
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      ],
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      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000261448.5:p.Tyr192_Glu399delinsIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573181219",
      "coordinates": [
        {
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          "end": 840,
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      "gene": "http://reg.genome.network/gene/GN001513",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018048"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714296",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          "RefSeq": {
            "hgvs": "NM_001232.4:c.576C>A"
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        },
        "protein": {
          "Ensembl": {
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          "RefSeq": {
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        }
      }
    }
  ],
  "type": "nucleotide"
}