{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA192299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 262,
          "referenceAllele": "F",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Phe262Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA192297",
          "hgvs": "NM_002485.5:c.786C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371658650",
          "hgvs": "NM_002485.5:c.786C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371658658",
          "hgvs": "NM_002485.5:c.784T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182870[alleleid]",
        "alleleId": 182870,
        "preferredName": "NM_002485.5(NBN):c.786C>A (p.Phe262Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=617481[alleleid]",
        "alleleId": 617481,
        "preferredName": "NM_002485.5(NBN):c.786C>G (p.Phe262Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185571",
        "RCV": [
          "RCV000165014",
          "RCV000214639",
          "RCV000473725",
          "RCV001264536",
          "RCV003462161"
        ],
        "variationId": 185571
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/630446",
        "RCV": [
          "RCV000775829",
          "RCV001302594"
        ],
        "variationId": 630446
      }
    ]
  },
  "type": "amino-acid"
}