{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA294384",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 452,
          "referenceAllele": "T",
          "start": 451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Thr452Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294382",
          "hgvs": "NM_002485.5:c.1354A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=152088[alleleid]",
        "alleleId": 152088,
        "preferredName": "NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142374",
        "RCV": [
          "RCV000131458",
          "RCV000199946",
          "RCV000212747",
          "RCV000735122",
          "RCV002225444",
          "RCV003492622",
          "RCV003905237"
        ],
        "variationId": 142374
      }
    ]
  },
  "type": "amino-acid"
}