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  "communityStandardTitle": [
    "NM_002294.3(LAMP2):c.696T>A (p.Cys232Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/463159",
        "RCV": [
          "RCV000549262",
          "RCV003159800"
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        "variationId": 463159
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.119581741A>T?assembly=hg19",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1556101523",
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      "chromosome": "X",
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "X",
      "coordinates": [
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          "end": 119581741,
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          "start": 119581740
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "X",
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      "referenceGenome": "NCBI36",
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    },
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740144",
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          }
        }
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    {
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      "geneNCBI_id": 3920,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247773"
    },
    {
      "coordinates": [
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      "geneNCBI_id": 3920,
      "geneSymbol": "LAMP2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000360386.4:p.Cys232Ter",
        "hgvsWellDefined": "ENSP00000360386.4:p.Cys232_Leu410delinsLeuLeuAlaThrMetGlyLeuGlnLeuAsnIleThrGlnAspLysValAlaSerValIleAsnIleAsnProAsnThrThrHisSerThrGlySerCysArgSerHisThrAlaLeuLeuArgLeuAsnSerSerThrIleLysTyrLeuAspPheValPheAlaValLysAsnGluAsnArgPheTyrLeuLysGluValAsnIleSerMetTyrLeuValAsnGlySerValPheSerIleAlaAsnAsnAsnLeuSerTyrTrpAspAlaProLeuGlySerSerTyrMetCysAsnLysGluGlnThrValSerValSerGlyAlaPheGlnIleAsnThrPheAspLeuArgValGlnProPheAsnValThrGlnGlyLysTyrSerThrAlaGlnGluCysSerLeuAspAspAspThrIleLeuIleProIleIleValGlyAlaGlyLeuSerGlyLeuIleIleValIleValIleAlaTyrValIleGlyArgArgLysSerTyrAlaGlyTyrGlnThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268535"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "T",
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      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000408411.2:p.Cys232_Val411delinsLeuLeuAlaThrMetGlyLeuGlnLeuAsnIleThrGlnAspLysValAlaSerValIleAsnIleAsnProAsnThrThrHisSerThrGlySerCysArgSerHisThrAlaLeuLeuArgLeuAsnSerSerThrIleLysTyrLeuAspPheValPheAlaValLysAsnGluAsnArgPheTyrLeuLysGluValAsnIleSerMetTyrLeuValAsnGlySerValPheSerIleAlaAsnAsnAsnLeuSerTyrTrpAspAlaProLeuGlySerSerTyrMetCysAsnLysGluGlnThrValSerValSerGlyAlaPheGlnIleAsnThrPheAspLeuArgValGlnProPheAsnValThrGlnGlyLysTyrSerThrAlaGluGluCysSerAlaAspSerAspLeuAsnPheLeuIleProValAlaValGlyValAlaLeuGlyPheLeuIleIleValValPheIleSerTyrMetIleGlyArgArgLysSerArgThrGlyTyrGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293115"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 239,
          "referenceAllele": "T",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006501",
      "geneNCBI_id": 3920,
      "geneSymbol": "LAMP2",
      "hgvs": [
        "ENST00000486593.5:c.239T>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325360"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825581710",
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006501",
      "geneNCBI_id": 3920,
      "geneSymbol": "LAMP2",
      "hgvs": [
        "NM_001122606.1:c.696T>A",
        "LRG_749t3:c.696T>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001116078.1:p.Cys232_Val411delinsLeuLeuAlaThrMetGlyLeuGlnLeuAsnIleThrGlnAspLysValAlaSerValIleAsnIleAsnProAsnThrThrHisSerThrGlySerCysArgSerHisThrAlaLeuLeuArgLeuAsnSerSerThrIleLysTyrLeuAspPheValPheAlaValLysAsnGluAsnArgPheTyrLeuLysGluValAsnIleSerMetTyrLeuValAsnGlySerValPheSerIleAlaAsnAsnAsnLeuSerTyrTrpAspAlaProLeuGlySerSerTyrMetCysAsnLysGluGlnThrValSerValSerGlyAlaPheGlnIleAsnThrPheAspLeuArgValGlnProPheAsnValThrGlnGlyLysTyrSerThrAlaGluGluCysSerAlaAspSerAspLeuAsnPheLeuIleProValAlaValGlyValAlaLeuGlyPheLeuIleIleValValPheIleSerTyrMetIleGlyArgArgLysSerArgThrGlyTyrGlnSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011377"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829374374",
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN006501",
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      "geneSymbol": "LAMP2",
      "hgvs": [
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        "hgvsWellDefined": "NP_002285.1:p.Cys232_Phe410delinsLeuLeuAlaThrMetGlyLeuGlnLeuAsnIleThrGlnAspLysValAlaSerValIleAsnIleAsnProAsnThrThrHisSerThrGlySerCysArgSerHisThrAlaLeuLeuArgLeuAsnSerSerThrIleLysTyrLeuAspPheValPheAlaValLysAsnGluAsnArgPheTyrLeuLysGluValAsnIleSerMetTyrLeuValAsnGlySerValPheSerIleAlaAsnAsnAsnLeuSerTyrTrpAspAlaProLeuGlySerSerTyrMetCysAsnLysGluGlnThrValSerValSerGlyAlaPheGlnIleAsnThrPheAspLeuArgValGlnProPheAsnValThrGlnGlyLysTyrSerThrAlaGlnAspCysSerAlaAspAspAspAsnPheLeuValProIleAlaValGlyAlaAlaLeuAlaGlyValLeuIleLeuValLeuLeuAlaTyrPheIleGlyLeuLysHisHisHisAlaGlyTyrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658664352",
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      ],
      "gene": "http://reg.genome.network/gene/GN006501",
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      "geneSymbol": "LAMP2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_054701.1:p.Cys232_Leu410delinsLeuLeuAlaThrMetGlyLeuGlnLeuAsnIleThrGlnAspLysValAlaSerValIleAsnIleAsnProAsnThrThrHisSerThrGlySerCysArgSerHisThrAlaLeuLeuArgLeuAsnSerSerThrIleLysTyrLeuAspPheValPheAlaValLysAsnGluAsnArgPheTyrLeuLysGluValAsnIleSerMetTyrLeuValAsnGlySerValPheSerIleAlaAsnAsnAsnLeuSerTyrTrpAspAlaProLeuGlySerSerTyrMetCysAsnLysGluGlnThrValSerValSerGlyAlaPheGlnIleAsnThrPheAspLeuArgValGlnProPheAsnValThrGlnGlyLysTyrSerThrAlaGlnGluCysSerLeuAspAspAspThrIleLeuIleProIleIleValGlyAlaGlyLeuSerGlyLeuIleIleValIleValIleAlaTyrValIleGlyArgArgLysSerTyrAlaGlyTyrGlnThrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829374374",
      "coordinates": [
        {
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          "end": 823,
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      ],
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      "geneSymbol": "LAMP2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_002285.1:p.Cys232_Phe410delinsLeuLeuAlaThrMetGlyLeuGlnLeuAsnIleThrGlnAspLysValAlaSerValIleAsnIleAsnProAsnThrThrHisSerThrGlySerCysArgSerHisThrAlaLeuLeuArgLeuAsnSerSerThrIleLysTyrLeuAspPheValPheAlaValLysAsnGluAsnArgPheTyrLeuLysGluValAsnIleSerMetTyrLeuValAsnGlySerValPheSerIleAlaAsnAsnAsnLeuSerTyrTrpAspAlaProLeuGlySerSerTyrMetCysAsnLysGluGlnThrValSerValSerGlyAlaPheGlnIleAsnThrPheAspLeuArgValGlnProPheAsnValThrGlnGlyLysTyrSerThrAlaGlnAspCysSerAlaAspAspAspAsnPheLeuValProIleAlaValGlyAlaAlaLeuAlaGlyValLeuIleLeuValLeuLeuAlaTyrPheIleGlyLeuLysHisHisHisAlaGlyTyrGluGlnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695505",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
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        },
        "protein": {
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          "RefSeq": {
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    }
  ],
  "type": "nucleotide"
}