{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139735047",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 779,
          "referenceAllele": "M",
          "start": 778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Met779Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA382540114",
          "hgvs": "NM_001351834.2:c.2337G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382540117",
          "hgvs": "NM_001351834.2:c.2337G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382540118",
          "hgvs": "NM_001351834.2:c.2337G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=917067[alleleid]",
        "alleleId": 917067,
        "preferredName": "NM_000051.4(ATM):c.2337G>A (p.Met779Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/928492",
        "RCV": [
          "RCV001192417",
          "RCV002447034"
        ],
        "variationId": 928492
      }
    ]
  },
  "type": "amino-acid"
}