{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA248698",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 1420,
          "referenceAllele": "L",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Leu1420Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248696",
          "hgvs": "NM_000051.4:c.4258C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133905[alleleid]",
        "alleleId": 133905,
        "preferredName": "NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/128456",
        "RCV": [
          "RCV000116425",
          "RCV000119139",
          "RCV000130979",
          "RCV001357258",
          "RCV001798368",
          "RCV001795159",
          "RCV002225336"
        ],
        "variationId": 128456
      }
    ]
  },
  "type": "amino-acid"
}