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  "communityStandardTitle": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3061957",
        "RCV": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS071153"
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      "referenceSequence": "http://reg.genome.network/refseq/RS071154"
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      "referenceSequence": "http://reg.genome.network/refseq/RS071155"
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      "referenceSequence": "http://reg.genome.network/refseq/RS102644"
    },
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      "coordinates": [
        {
          "allele": "T",
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      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS102647"
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS102648"
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS102650"
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    {
      "@id": "http://reg.genome.network/allele/PA2827402112",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS517802"
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    {
      "@id": "http://reg.genome.network/allele/PA2827402593",
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        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN017089",
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      "referenceSequence": "http://reg.genome.network/refseq/RS517803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 25593
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      ],
      "gene": "http://reg.genome.network/gene/GN017089",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006715473.1:p.Arg8371_Leu8832delinsGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538923"
    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS538932"
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    {
      "coordinates": [
        {
          "allele": "T",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS564633"
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      "referenceSequence": "http://reg.genome.network/refseq/RS564636"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS564637"
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      "referenceSequence": "http://reg.genome.network/refseq/RS564638"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS564639"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS564640"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742031995",
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS673038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.25006C>T"
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          "RefSeq": {
            "hgvs": "NM_182961.4:c.25006C>T"
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        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Arg8336Ter"
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          "RefSeq": {
            "hgvs": "NP_892006.3:p.Arg8336Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402112",
      "coordinates": [
        {
          "allele": "T",
          "end": 1843,
          "referenceAllele": "C",
          "start": 1842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347701.2:c.1612C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334630.1:p.Arg538Ter",
        "hgvsWellDefined": "NP_001334630.1:p.Arg538_Phe911delinsGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719051"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827402593",
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "C",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_001347702.2:c.1540C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001334631.1:p.Arg514Ter",
        "hgvsWellDefined": "NP_001334631.1:p.Arg514_Leu975delinsGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719052",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354674.5:c.1540C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001347702.2:c.1540C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346701.4:p.Arg514Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001334631.1:p.Arg514Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830089618",
      "coordinates": [
        {
          "allele": "T",
          "end": 25338,
          "referenceAllele": "C",
          "start": 25337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.24862C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Arg8288Ter",
        "hgvsWellDefined": "NP_149062.2:p.Arg8288_Leu8749delinsGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrProArgGlyLysCysSerLeuSerGlnProGlyProSerValSerSerProHisSerArgSerThrLysGlyGlySerAspSerSerLeuSerGluProGlyProGlyArgSerGlyArgGlyPheLeuPheArgValLeuArgAlaAlaLeuProLeuGlnLeuLeuLeuLeuLeuLeuIleGlyLeuAlaCysLeuValProMetSerGluGluAspTyrSerCysAlaLeuSerAsnAsnPheAlaArgSerPheHisProMetLeuArgTyrThrAsnGlyProProProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}