{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916032195",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 821,
          "referenceAllele": "S",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Ser821Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA349704",
          "hgvs": "NM_001351834.2:c.2463T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382541397",
          "hgvs": "NM_001351834.2:c.2461A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382541416",
          "hgvs": "NM_001351834.2:c.2463T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222054[alleleid]",
        "alleleId": 222054,
        "preferredName": "NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/220178",
        "RCV": [
          "RCV000205560",
          "RCV001358330",
          "RCV003468944",
          "RCV002453740"
        ],
        "variationId": 220178
      }
    ]
  },
  "type": "amino-acid"
}