{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA286707",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 337,
          "referenceAllele": "R",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Arg337His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA286705",
          "hgvs": "NM_000051.4:c.1010G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132785[alleleid]",
        "alleleId": 132785,
        "preferredName": "NM_000051.4(ATM):c.1010G>A (p.Arg337His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127328",
        "RCV": [
          "RCV000115131",
          "RCV000204640",
          "RCV000211955",
          "RCV001174655",
          "RCV001257472",
          "RCV001354564",
          "RCV003492451"
        ],
        "variationId": 127328
      }
    ]
  },
  "type": "amino-acid"
}