{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA160968",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 469,
          "referenceAllele": "D",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007652",
      "geneNCBI_id": 4683,
      "geneSymbol": "NBN",
      "hgvs": [
        "NP_002476.2:p.Asp469Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA160966",
          "hgvs": "NM_002485.5:c.1405G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168334"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=138612[alleleid]",
        "alleleId": 138612,
        "preferredName": "NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/134873",
        "RCV": [
          "RCV000121613",
          "RCV000129788",
          "RCV000167890",
          "RCV000588734",
          "RCV002225383",
          "RCV003389699",
          "RCV003474728"
        ],
        "variationId": 134873
      }
    ]
  },
  "type": "amino-acid"
}