{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA287952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 263,
          "referenceAllele": "F",
          "start": 262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Phe263Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA287950",
          "hgvs": "NM_002485.5:c.788T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133337[alleleid]",
        "alleleId": 133337,
        "preferredName": "NM_002485.5(NBN):c.788T>C (p.Phe263Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127880",
        "RCV": [
          "RCV000115806",
          "RCV000199794",
          "RCV000212737",
          "RCV000656926",
          "RCV003492492"
        ],
        "variationId": 127880
      }
    ]
  },
  "type": "amino-acid"
}