{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA325618",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 561,
          "referenceAllele": "A",
          "start": 560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Ala561Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325617",
          "hgvs": "NM_000492.4:c.1682C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22279[alleleid]",
        "alleleId": 22279,
        "preferredName": "NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7240",
        "RCV": [
          "RCV000007662",
          "RCV000759032",
          "RCV001004265",
          "RCV001826451",
          "RCV003473050"
        ],
        "variationId": 7240
      }
    ]
  },
  "type": "amino-acid"
}