{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA294396",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "referenceAllele": "W",
          "start": 487
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      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294394",
          "hgvs": "NM_000051.4:c.1464G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382534152",
          "hgvs": "NM_000051.4:c.1464G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152147[alleleid]",
        "alleleId": 152147,
        "preferredName": "NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=837647[alleleid]",
        "alleleId": 837647,
        "preferredName": "NM_000051.4(ATM):c.1464G>C (p.Trp488Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142433",
        "RCV": [
          "RCV000131552",
          "RCV000168391",
          "RCV000235099",
          "RCV000515383",
          "RCV001357286",
          "RCV001199851",
          "RCV003462015",
          "RCV004551263"
        ],
        "variationId": 142433
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/861269",
        "RCV": [
          "RCV001067758"
        ],
        "variationId": 861269
      }
    ]
  },
  "type": "amino-acid"
}