{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916035129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1,
          "referenceAllele": "M",
          "start": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338765.1:p.Met1Ile"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622949"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186796[alleleid]",
        "alleleId": 186796,
        "preferredName": "NM_000051.4(ATM):c.3G>A (p.Met1Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3307620[alleleid]",
        "alleleId": 3307620,
        "preferredName": "NM_000051.4(ATM):c.3G>C (p.Met1Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188901",
        "RCV": [
          "RCV000169261",
          "RCV000215466",
          "RCV000223021",
          "RCV004020015"
        ],
        "variationId": 188901
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3148372",
        "RCV": [
          "RCV004440277"
        ],
        "variationId": 3148372
      }
    ]
  },
  "type": "amino-acid"
}