{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825335523",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 498,
          "referenceAllele": "V",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_001019859.1:p.Val498Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10582596",
          "hgvs": "NM_001024688.3:c.1492G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240410[alleleid]",
        "alleleId": 240410,
        "preferredName": "NM_002485.5(NBN):c.1738G>A (p.Val580Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239187",
        "RCV": [
          "RCV000232061",
          "RCV004020790"
        ],
        "variationId": 239187
      }
    ]
  },
  "type": "amino-acid"
}