{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA157109",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1210,
          "referenceAllele": "M",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Met1210Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA157107",
          "hgvs": "NM_000051.4:c.3630G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA6265328",
          "hgvs": "NM_000051.4:c.3630G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA382522877",
          "hgvs": "NM_000051.4:c.3630G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=137355[alleleid]",
        "alleleId": 137355,
        "preferredName": "NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=810400[alleleid]",
        "alleleId": 810400,
        "preferredName": "NM_000051.4(ATM):c.3630G>T (p.Met1210Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/133616",
        "RCV": [
          "RCV000120134",
          "RCV000131218",
          "RCV000476722",
          "RCV000657063"
        ],
        "variationId": 133616
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/824013",
        "RCV": [
          "RCV001020766"
        ],
        "variationId": 824013
      }
    ]
  },
  "type": "amino-acid"
}