{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA239216",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 448,
          "referenceAllele": "Q",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Gln448Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239214",
          "hgvs": "NM_002485.5:c.1343A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180290[alleleid]",
        "alleleId": 180290,
        "preferredName": "NM_002485.5(NBN):c.1343A>T (p.Gln448Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182720",
        "RCV": [
          "RCV000160787",
          "RCV000200818",
          "RCV000656928",
          "RCV001264572",
          "RCV003474834"
        ],
        "variationId": 182720
      }
    ]
  },
  "type": "amino-acid"
}