{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825334241",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 7,
          "referenceAllele": "R",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_001019859.1:p.Arg7Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA189935",
          "hgvs": "NM_001024688.3:c.20G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182896[alleleid]",
        "alleleId": 182896,
        "preferredName": "NM_002485.5(NBN):c.266G>C (p.Arg89Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184749",
        "RCV": [
          "RCV000164059",
          "RCV000473711",
          "RCV000483231",
          "RCV001354099"
        ],
        "variationId": 184749
      }
    ]
  },
  "type": "amino-acid"
}