{
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  "@id": "http://reg.genome.network/allele/CA386296415",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.2761A>T (p.Lys921Ter)"
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        "preferredName": "NM_024312.5(GNPTAB):c.2761A>T (p.Lys921Ter)"
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    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/983857",
        "RCV": [
          "RCV001263860"
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        "variationId": 983857
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102155496T>A?assembly=hg19",
        "id": "chr12:g.102155496T>A"
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr12:g.101761718T>A?assembly=hg38",
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1952999818",
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    ]
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      "chromosome": "12",
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      "referenceGenome": "NCBI36",
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    },
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
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      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
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      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
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      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745864",
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      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Lys921Ter",
        "hgvsWellDefined": "NP_077288.2:p.Lys921_Val1256delinsAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.2761A>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.2761A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Lys921Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Lys921Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}