{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916034384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 2508,
          "referenceAllele": "G",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Gly2508Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA197186",
          "hgvs": "NM_001351834.2:c.7522G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382560645",
          "hgvs": "NM_001351834.2:c.7522G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183395[alleleid]",
        "alleleId": 183395,
        "preferredName": "NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4870425[alleleid]",
        "alleleId": 4870425,
        "preferredName": "NM_000051.4(ATM):c.7522G>C (p.Gly2508Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187265",
        "RCV": [
          "RCV000166982",
          "RCV000235394",
          "RCV000461205",
          "RCV004552929"
        ],
        "variationId": 187265
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4759098",
        "RCV": [
          "RCV006554865"
        ],
        "variationId": 4759098
      }
    ]
  },
  "type": "amino-acid"
}