{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825334629",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 198,
          "referenceAllele": "T",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_001019859.1:p.Thr198Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371658469",
          "hgvs": "NM_001024688.3:c.593C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1298883[alleleid]",
        "alleleId": 1298883,
        "preferredName": "NM_002485.5(NBN):c.839C>T (p.Thr280Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1307613",
        "RCV": [
          "RCV001763149",
          "RCV002440854",
          "RCV002540321"
        ],
        "variationId": 1307613
      }
    ]
  },
  "type": "amino-acid"
}