{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA337509",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 2642,
          "referenceAllele": "R",
          "start": 2641
        }
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      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Arg2642Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA337507",
          "hgvs": "NM_000051.4:c.7926A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382561528",
          "hgvs": "NM_000051.4:c.7926A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212910[alleleid]",
        "alleleId": 212910,
        "preferredName": "NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1984584[alleleid]",
        "alleleId": 1984584,
        "preferredName": "NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215980",
        "RCV": [
          "RCV000197870",
          "RCV000215938",
          "RCV000420030",
          "RCV001250432"
        ],
        "variationId": 215980
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1929577",
        "RCV": [
          "RCV002635439",
          "RCV003308193",
          "RCV003482417"
        ],
        "variationId": 1929577
      }
    ]
  },
  "type": "amino-acid"
}