{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA195898",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 606,
          "referenceAllele": "E",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Glu606Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA195896",
          "hgvs": "NM_002485.5:c.1816G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182840[alleleid]",
        "alleleId": 182840,
        "preferredName": "NM_002485.5(NBN):c.1816G>A (p.Glu606Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/186796",
        "RCV": [
          "RCV000166446",
          "RCV000586042",
          "RCV000636773"
        ],
        "variationId": 186796
      }
    ]
  },
  "type": "amino-acid"
}