{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA298146",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 576,
          "referenceAllele": "I",
          "start": 575
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Ile576Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA298144",
          "hgvs": "NM_000051.4:c.1727T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180400[alleleid]",
        "alleleId": 180400,
        "preferredName": "NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181920",
        "RCV": [
          "RCV000159685",
          "RCV000196810",
          "RCV000590025",
          "RCV003230420",
          "RCV003462071"
        ],
        "variationId": 181920
      }
    ]
  },
  "type": "amino-acid"
}