{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA294141",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 25,
          "referenceAllele": "V",
          "start": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Val25Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294139",
          "hgvs": "NM_002485.5:c.73G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151154[alleleid]",
        "alleleId": 151154,
        "preferredName": "NM_002485.5(NBN):c.73G>A (p.Val25Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/141440",
        "RCV": [
          "RCV000129954",
          "RCV000212726",
          "RCV000232974",
          "RCV000656923"
        ],
        "variationId": 141440
      }
    ]
  },
  "type": "amino-acid"
}