{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825335574",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 515,
          "referenceAllele": "I",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_001019859.1:p.Ile515Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA181257648",
          "hgvs": "NM_001024688.3:c.1543A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371655086",
          "hgvs": "NM_001024688.3:c.1543A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=617443[alleleid]",
        "alleleId": 617443,
        "preferredName": "NM_002485.5(NBN):c.1789A>T (p.Ile597Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/627914",
        "RCV": [
          "RCV000772164",
          "RCV001800869",
          "RCV002282362"
        ],
        "variationId": 627914
      }
    ]
  },
  "type": "amino-acid"
}