{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093683",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 117,
          "referenceAllele": "R",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Arg117Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA327222",
          "hgvs": "NM_000492.4:c.350G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3268250494",
          "hgvs": "NM_000492.4:c.350_351delinsTT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=68433[alleleid]",
        "alleleId": 68433,
        "preferredName": "NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4927654[alleleid]",
        "alleleId": 4927654,
        "preferredName": "NM_000492.4(CFTR):c.350_351delinsTT (p.Arg117Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/53765",
        "RCV": [
          "RCV000577295",
          "RCV000985692",
          "RCV003474583",
          "RCV003483455"
        ],
        "variationId": 53765
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4818539",
        "RCV": [
          "RCV006645250"
        ],
        "variationId": 4818539
      }
    ]
  },
  "type": "amino-acid"
}