{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA332809",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35,
          "referenceAllele": "I",
          "start": 34
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Ile35Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA332807",
          "hgvs": "NM_002485.5:c.104T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA658683519",
          "hgvs": "NM_002485.5:c.102_104delinsAAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=139746[alleleid]",
        "alleleId": 139746,
        "preferredName": "NM_002485.5(NBN):c.104T>C (p.Ile35Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=482701[alleleid]",
        "alleleId": 482701,
        "preferredName": "NM_002485.5(NBN):c.102_104delinsAAC (p.Ile35Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/136034",
        "RCV": [
          "RCV000123202",
          "RCV000221417",
          "RCV000484131",
          "RCV001264517",
          "RCV003467093"
        ],
        "variationId": 136034
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/490042",
        "RCV": [
          "RCV000579707"
        ],
        "variationId": 490042
      }
    ]
  },
  "type": "amino-acid"
}