{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA350576555",
  "communityStandardTitle": [
    "NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=541766[alleleid]",
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        "preferredName": "NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)"
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    "ClinVarVariations": [
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/550975",
        "RCV": [
          "RCV000665890"
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        "@id": "http://myvariant.info/v1/variant/chr2:g.219647098C>T?assembly=hg19",
        "id": "chr2:g.219647098C>T"
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1553614310",
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      "referenceSequence": "http://reg.genome.network/refseq/RS000727"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250383"
    },
    {
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
          "start": 222
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      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
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      "hgvs": [
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298530"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN002605",
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      "referenceSequence": "http://reg.genome.network/refseq/RS309935"
    },
    {
      "coordinates": [
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          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN002605",
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      "geneSymbol": "CYP27A1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS331239"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826372",
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
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      "hgvs": [
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      ],
      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS559207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658826372",
      "coordinates": [
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          "allele": "T",
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          "referenceAllele": "C",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002605",
      "geneNCBI_id": 1593,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662578",
      "MANE": {
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        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NM_000784.4:c.193C>T"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
            "hgvs": "NP_000775.1:p.Gln65Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}