{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA193559",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 1269,
          "referenceAllele": "K",
          "start": 1268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Lys1269Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA193557",
          "hgvs": "NM_000051.4:c.3806A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183260[alleleid]",
        "alleleId": 183260,
        "preferredName": "NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185981",
        "RCV": [
          "RCV000165498",
          "RCV000206887",
          "RCV000590439",
          "RCV000763700",
          "RCV001798592",
          "RCV003462176",
          "RCV004552911"
        ],
        "variationId": 185981
      }
    ]
  },
  "type": "amino-acid"
}