{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916032989",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1401,
          "referenceAllele": "L",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Leu1401Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA286834",
          "hgvs": "NM_001351834.2:c.4201T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=132840[alleleid]",
        "alleleId": 132840,
        "preferredName": "NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127383",
        "RCV": [
          "RCV000115188",
          "RCV000468550",
          "RCV000568754"
        ],
        "variationId": 127383
      }
    ]
  },
  "type": "amino-acid"
}