{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465860",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 341,
          "referenceAllele": "S",
          "start": 340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Ser341Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4802815",
          "hgvs": "NM_002485.5:c.1023C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371656765",
          "hgvs": "NM_002485.5:c.1023C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371656771",
          "hgvs": "NM_002485.5:c.1021A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=240415[alleleid]",
        "alleleId": 240415,
        "preferredName": "NM_002485.5(NBN):c.1023C>G (p.Ser341Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239182",
        "RCV": [
          "RCV000230649",
          "RCV000446226",
          "RCV001818596",
          "RCV003469157",
          "RCV001770195"
        ],
        "variationId": 239182
      }
    ]
  },
  "type": "amino-acid"
}