{
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  "@id": "http://reg.genome.network/allele/CA16621612",
  "communityStandardTitle": [
    "NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424966",
        "RCV": [
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        "variationId": 424966
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        "id": "chr10:g.124221619C>T"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/754645487",
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
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      "referenceGenome": "GRCh37",
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    },
    {
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS750333",
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        "maneStatus": "MANE Select",
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        }
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      "coordinates": [
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          "endIntronDirection": "+",
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          "startIntronDirection": "+",
          "startIntronOffset": 3393
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      "geneNCBI_id": 5654,
      "geneSymbol": "HTRA1",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS769826"
    },
    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267298"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469530",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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      "geneSymbol": "HTRA1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028061"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469530",
      "coordinates": [
        {
          "allele": "T",
          "end": 551,
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      "geneNCBI_id": 5654,
      "geneSymbol": "HTRA1",
      "hgvs": [
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        "hgvsWellDefined": "NP_002766.1:p.Gln151_Pro480delinsArgGlyAlaCysGlyGlnGlyGlnGluAspProAsnSerLeuArgHisLysTyrAsnPheIleAlaAspValValGluLysIleAlaProAlaValValHisIleGluLeuPheArgLysLeuProPheSerLysArgGluValProValAlaSerGlySerGlyPheIleValSerGluAspGlyLeuIleValThrAsnAlaHisValValThrAsnLysHisArgValLysValGluLeuLysAsnGlyAlaThrTyrGluAlaLysIleLysAspValAspGluLysAlaAspIleAlaLeuIleLysIleAspHisGlnGlyLysLeuProValLeuLeuLeuGlyArgSerSerGluLeuArgProGlyGluPheValValAlaIleGlySerProPheSerLeuGlnAsnThrValThrThrGlyIleValSerThrThrGlnArgGlyGlyLysGluLeuGlyLeuArgAsnSerAspMetAspTyrIleGlnThrAspAlaIleIleAsnTyrGlyAsnSerGlyGlyProLeuValAsnLeuAspGlyGluValIleGlyIleAsnThrLeuLysValThrAlaGlyIleSerPheAlaIleProSerAspLysIleLysLysPheLeuThrGluSerHisAspArgGlnAlaLysGlyLysAlaIleThrLysLysLysTyrIleGlyIleArgMetMetSerLeuThrSerSerLysAlaLysGluLeuLysAspArgHisArgAspPheProAspValIleSerGlyAlaTyrIleIleGluValIleProAspThrProAlaGluAlaGlyGlyLeuLysGluAsnAspValIleIleSerIleAsnGlyGlnSerValValSerAlaAsnAspValSerAspValIleLysArgGluSerThrLeuAsnMetValValArgArgGlyAsnGluAspIleMetIleThrValIleProGluGluIleAspProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000368984.8:c.451C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002775.5:c.451C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000357980.3:p.Gln151Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002766.1:p.Gln151Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}