{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA190480",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2995,
          "referenceAllele": "L",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_000042.3:p.Leu2995Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA190478",
          "hgvs": "NM_000051.4:c.8983C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146604"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183468[alleleid]",
        "alleleId": 183468,
        "preferredName": "NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184922",
        "RCV": [
          "RCV000164264",
          "RCV000313650",
          "RCV000480659",
          "RCV002288730",
          "RCV001535473",
          "RCV003491891"
        ],
        "variationId": 184922
      }
    ]
  },
  "type": "amino-acid"
}