{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573062906",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 194,
          "referenceAllele": "G",
          "start": 193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Gly194Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA164945384",
          "hgvs": "NM_000492.4:c.580G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368976697",
          "hgvs": "NM_000492.4:c.580G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1290327[alleleid]",
        "alleleId": 1290327,
        "preferredName": "NM_000492.4(CFTR):c.580G>A (p.Gly194Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2097149[alleleid]",
        "alleleId": 2097149,
        "preferredName": "NM_000492.4(CFTR):c.580G>C (p.Gly194Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1300164",
        "RCV": [
          "RCV001731141",
          "RCV003474017",
          "RCV004536271"
        ],
        "variationId": 1300164
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2035365",
        "RCV": [
          "RCV002889997"
        ],
        "variationId": 2035365
      }
    ]
  },
  "type": "amino-acid"
}