{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916028893",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
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          "end": 1097,
          "referenceAllele": "M",
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      "gene": "http://reg.genome.network/gene/GN003438",
      "geneNCBI_id": 2074,
      "geneSymbol": "ERCC6",
      "hgvs": [
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      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001346440.2:c.3289A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573145162",
          "hgvs": "NM_001346440.2:c.3288_3289delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617673"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=134462[alleleid]",
        "alleleId": 134462,
        "preferredName": "NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1600860[alleleid]",
        "alleleId": 1600860,
        "preferredName": "NM_000124.4(ERCC6):c.3288_3289inv (p.Met1097Val)"
      }
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/129016",
        "RCV": [
          "RCV000116997",
          "RCV000287947",
          "RCV000378942",
          "RCV000322054",
          "RCV001519186"
        ],
        "variationId": 129016
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1648708",
        "RCV": [
          "RCV002154035"
        ],
        "variationId": 1648708
      }
    ]
  },
  "type": "amino-acid"
}