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  "@id": "http://reg.genome.network/allele/CA393842620",
  "communityStandardTitle": [
    "NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1493568[alleleid]",
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        "preferredName": "NM_000057.4(BLM):c.1237G>T (p.Glu413Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1432994",
        "RCV": [
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        "@id": "http://myvariant.info/v1/variant/chr15:g.91303840G>T?assembly=hg19",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/887921909",
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      "coordinates": [
        {
          "allele": "T",
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          "start": 1520
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011520183.1:n.-78G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS546362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1284,
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          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546363"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1336,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
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      "hgvs": [
        "NM_000057.4:c.1237G>T"
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      "proteinEffect": {
        "hgvs": "NP_000048.1:p.Glu413Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS662304",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355112.8:c.1237G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000057.4:c.1237G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347232.3:p.Glu413Ter"
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          "RefSeq": {
            "hgvs": "NP_000048.1:p.Glu413Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1446,
          "referenceAllele": "G",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
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      "geneSymbol": "BLM",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001274175.1:p.Glu413Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS682382"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573191674",
      "coordinates": [
        {
          "allele": "T",
          "end": 1336,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
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      "proteinEffect": {
        "hgvs": "NP_001274176.1:p.Glu413Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682383"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1502,
          "referenceAllele": "G",
          "start": 1501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001058",
      "geneNCBI_id": 641,
      "geneSymbol": "BLM",
      "hgvs": [
        "NM_001287248.2:c.112G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274177.1:p.Glu38Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682384"
    }
  ],
  "type": "nucleotide"
}