{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825335300",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 416,
          "referenceAllele": "P",
          "start": 415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_001019859.1:p.Pro416Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA181258037",
          "hgvs": "NM_001024688.3:c.1246C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1190812[alleleid]",
        "alleleId": 1190812,
        "preferredName": "NM_002485.5(NBN):c.1492C>A (p.Pro498Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1202463",
        "RCV": [
          "RCV001568147",
          "RCV001832777",
          "RCV004039356"
        ],
        "variationId": 1202463
      }
    ]
  },
  "type": "amino-acid"
}