{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA191234",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 603,
          "referenceAllele": "F",
          "start": 602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Phe603Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA191232",
          "hgvs": "NM_002485.5:c.1809C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371655043",
          "hgvs": "NM_002485.5:c.1809C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371655047",
          "hgvs": "NM_002485.5:c.1807T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=182841[alleleid]",
        "alleleId": 182841,
        "preferredName": "NM_002485.5(NBN):c.1809C>A (p.Phe603Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1160750[alleleid]",
        "alleleId": 1160750,
        "preferredName": "NM_002485.5(NBN):c.1809C>G (p.Phe603Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185174",
        "RCV": [
          "RCV000164543",
          "RCV000424535",
          "RCV000589243",
          "RCV001030565",
          "RCV001081367",
          "RCV001357000"
        ],
        "variationId": 185174
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1171527",
        "RCV": [
          "RCV001524723"
        ],
        "variationId": 1171527
      }
    ]
  },
  "type": "amino-acid"
}