{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825334839",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 264,
          "referenceAllele": "V",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_001019859.1:p.Val264Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA287895",
          "hgvs": "NM_001024688.3:c.790G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=133311[alleleid]",
        "alleleId": 133311,
        "preferredName": "NM_002485.5(NBN):c.1036G>A (p.Val346Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/127854",
        "RCV": [
          "RCV000115776",
          "RCV000212741",
          "RCV000589164",
          "RCV001293998",
          "RCV001255161",
          "RCV001082179",
          "RCV001355371",
          "RCV003945047"
        ],
        "variationId": 127854
      }
    ]
  },
  "type": "amino-acid"
}