{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA206705",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 93,
          "referenceAllele": "S",
          "start": 92
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Ser93Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA206703",
          "hgvs": "NM_002485.5:c.278C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=151941[alleleid]",
        "alleleId": 151941,
        "preferredName": "NM_002485.5(NBN):c.278C>T (p.Ser93Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/142227",
        "RCV": [
          "RCV000131226",
          "RCV000193311",
          "RCV000168344",
          "RCV000586867",
          "RCV001354986"
        ],
        "variationId": 142227
      }
    ]
  },
  "type": "amino-acid"
}