{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093669",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 117,
          "referenceAllele": "R",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Arg117His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221026",
          "hgvs": "NM_000492.4:c.350G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA353800",
          "hgvs": "NM_000492.4:c.[350G>A;1210-6del]"
        },
        {
          "@id": "http://reg.genome.network/allele/CA891862588",
          "hgvs": "NM_000492.4:c.[350G>A;1210-7_1210-6del]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22148[alleleid]",
        "alleleId": 22148,
        "preferredName": "NM_000492.4(CFTR):c.350G>A (p.Arg117His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7109",
        "RCV": [
          "RCV000007529",
          "RCV000007528",
          "RCV000078997",
          "RCV000417156",
          "RCV000763151",
          "RCV000826137",
          "RCV001009478",
          "RCV001642199",
          "RCV004018585",
          "RCV003473001"
        ],
        "variationId": 7109
      }
    ]
  },
  "type": "amino-acid"
}