{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916032017",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 674,
          "referenceAllele": "H",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.His674Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA164702",
          "hgvs": "NM_001351834.2:c.2021A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=150897[alleleid]",
        "alleleId": 150897,
        "preferredName": "NM_000051.4(ATM):c.2021A>G (p.His674Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141183",
        "RCV": [
          "RCV000129577",
          "RCV000168255",
          "RCV000181010",
          "RCV000236547",
          "RCV000515195",
          "RCV000780908",
          "RCV001356825",
          "RCV004551243",
          "RCV003492590"
        ],
        "variationId": 141183
      }
    ]
  },
  "type": "amino-acid"
}