{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA118640",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 508,
          "referenceAllele": "F",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Phe508del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA118639",
          "hgvs": "NM_000492.4:c.1521_1523del"
        },
        {
          "@id": "http://reg.genome.network/allele/CA164967779",
          "hgvs": "NM_000492.4:c.1522_1524del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22144[alleleid]",
        "alleleId": 22144,
        "preferredName": "NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4185942[alleleid]",
        "alleleId": 4185942,
        "preferredName": "NM_000492.4(CFTR):c.1522_1524del (p.Phe508del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7105",
        "RCV": [
          "RCV000007523",
          "RCV000007524",
          "RCV000058929",
          "RCV000119038",
          "RCV000626692",
          "RCV000626693",
          "RCV001004459",
          "RCV001642198",
          "RCV001831519",
          "RCV002251888",
          "RCV001787370",
          "RCV001787371",
          "RCV002243627",
          "RCV003444054",
          "RCV002490332",
          "RCV003227599"
        ],
        "variationId": 7105
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4072070",
        "RCV": [
          "RCV005622938"
        ],
        "variationId": 4072070
      }
    ]
  },
  "type": "amino-acid"
}