{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465881",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "referenceAllele": "S",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Ser387Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4802785",
          "hgvs": "NM_002485.5:c.1160C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=233660[alleleid]",
        "alleleId": 233660,
        "preferredName": "NM_002485.5(NBN):c.1160C>G (p.Ser387Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/232200",
        "RCV": [
          "RCV000215651",
          "RCV000699656",
          "RCV003477740"
        ],
        "variationId": 232200
      }
    ]
  },
  "type": "amino-acid"
}