{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916034417",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2531,
          "referenceAllele": "M",
          "start": 2530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Met2531Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA197744",
          "hgvs": "NM_001351834.2:c.7593G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382560796",
          "hgvs": "NM_001351834.2:c.7593G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382560797",
          "hgvs": "NM_001351834.2:c.7593G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183400[alleleid]",
        "alleleId": 183400,
        "preferredName": "NM_000051.4(ATM):c.7593G>A (p.Met2531Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=810643[alleleid]",
        "alleleId": 810643,
        "preferredName": "NM_000051.4(ATM):c.7593G>T (p.Met2531Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187478",
        "RCV": [
          "RCV000167211",
          "RCV000235970",
          "RCV000684945"
        ],
        "variationId": 187478
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/827140",
        "RCV": [
          "RCV001026593"
        ],
        "variationId": 827140
      }
    ]
  },
  "type": "amino-acid"
}