{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465193",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 12,
          "referenceAllele": "G",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Gly12Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10582607",
          "hgvs": "NM_002485.5:c.34G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371664132",
          "hgvs": "NM_002485.5:c.34G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240432[alleleid]",
        "alleleId": 240432,
        "preferredName": "NM_002485.5(NBN):c.34G>A (p.Gly12Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=617505[alleleid]",
        "alleleId": 617505,
        "preferredName": "NM_002485.5(NBN):c.34G>C (p.Gly12Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239195",
        "RCV": [
          "RCV000228075",
          "RCV000762529",
          "RCV000772147",
          "RCV003475060"
        ],
        "variationId": 239195
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/630431",
        "RCV": [
          "RCV000775704"
        ],
        "variationId": 630431
      }
    ]
  },
  "type": "amino-acid"
}