{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094631",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 574,
          "referenceAllele": "P",
          "start": 573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Pro574His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA325523",
          "hgvs": "NM_000492.4:c.1721C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22158[alleleid]",
        "alleleId": 22158,
        "preferredName": "NM_000492.4(CFTR):c.1721C>A (p.Pro574His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7119",
        "RCV": [
          "RCV000007539",
          "RCV001009367",
          "RCV001004269",
          "RCV001831523",
          "RCV002254259",
          "RCV002490333",
          "RCV003473008"
        ],
        "variationId": 7119
      }
    ]
  },
  "type": "amino-acid"
}