{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA284842",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 625,
          "referenceAllele": "F",
          "start": 624
        }
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      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_024312.5:c.1875C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA6746514",
          "hgvs": "NM_024312.5:c.1875C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA386299524",
          "hgvs": "NM_024312.5:c.1873T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178249"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78996[alleleid]",
        "alleleId": 78996,
        "preferredName": "NM_024312.5(GNPTAB):c.1875C>G (p.Phe625Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=546779[alleleid]",
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        "preferredName": "NM_024312.5(GNPTAB):c.1873T>C (p.Phe625Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=839246[alleleid]",
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        "preferredName": "NM_024312.5(GNPTAB):c.1875C>A (p.Phe625Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68105",
        "RCV": [
          "RCV000058934"
        ],
        "variationId": 68105
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/557689",
        "RCV": [
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        ],
        "variationId": 557689
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/855860",
        "RCV": [
          "RCV001061204",
          "RCV001276855"
        ],
        "variationId": 855860
      }
    ]
  },
  "type": "amino-acid"
}