{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139759867",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 347,
          "referenceAllele": "E",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026144",
      "geneNCBI_id": 79728,
      "geneSymbol": "PALB2",
      "hgvs": [
        "NP_078951.2:p.Glu347Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA395134244",
          "hgvs": "NM_024675.4:c.1039G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178449"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=937377[alleleid]",
        "alleleId": 937377,
        "preferredName": "NM_024675.4(PALB2):c.1039G>C (p.Glu347Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/942377",
        "RCV": [
          "RCV001212357",
          "RCV002393486"
        ],
        "variationId": 942377
      }
    ]
  },
  "type": "amino-acid"
}