{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916032121",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 761,
          "referenceAllele": "T",
          "start": 760
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      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Thr761Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294031",
          "hgvs": "NM_001351834.2:c.2281A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA6264991",
          "hgvs": "NM_001351834.2:c.2282C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139456[alleleid]",
        "alleleId": 139456,
        "preferredName": "NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2052325[alleleid]",
        "alleleId": 2052325,
        "preferredName": "NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/135744",
        "RCV": [
          "RCV000122833",
          "RCV000129351",
          "RCV002223130",
          "RCV000586568",
          "RCV004551196"
        ],
        "variationId": 135744
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2005561",
        "RCV": [
          "RCV002825311"
        ],
        "variationId": 2005561
      }
    ]
  },
  "type": "amino-acid"
}