{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA299623",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 567,
          "referenceAllele": "F",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Phe567Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA299621",
          "hgvs": "NM_002485.5:c.1701C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371655286",
          "hgvs": "NM_002485.5:c.1701C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371655291",
          "hgvs": "NM_002485.5:c.1699T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=180283[alleleid]",
        "alleleId": 180283,
        "preferredName": "NM_002485.5(NBN):c.1701C>G (p.Phe567Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=474721[alleleid]",
        "alleleId": 474721,
        "preferredName": "NM_002485.5(NBN):c.1699T>C (p.Phe567Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/182724",
        "RCV": [
          "RCV000160791",
          "RCV001800471",
          "RCV000771478"
        ],
        "variationId": 182724
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/480060",
        "RCV": [
          "RCV000563554",
          "RCV000796112"
        ],
        "variationId": 480060
      }
    ]
  },
  "type": "amino-acid"
}