{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916033801",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 2049,
          "referenceAllele": "Y",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000795",
      "geneNCBI_id": 472,
      "geneSymbol": "ATM",
      "hgvs": [
        "NP_001338763.1:p.Tyr2049Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA197753",
          "hgvs": "NM_001351834.2:c.6145T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622888"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=183344[alleleid]",
        "alleleId": 183344,
        "preferredName": "NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/187481",
        "RCV": [
          "RCV000167214",
          "RCV000523725",
          "RCV000628069",
          "RCV003330526",
          "RCV003483552"
        ],
        "variationId": 187481
      }
    ]
  },
  "type": "amino-acid"
}