{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094743",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 549,
          "referenceAllele": "S",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NP_000483.3:p.Ser549Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254107",
          "hgvs": "NM_000492.4:c.1647T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA254108",
          "hgvs": "NM_000492.4:c.1645A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368976076",
          "hgvs": "NM_000492.4:c.1647T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22157[alleleid]",
        "alleleId": 22157,
        "preferredName": "NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47338[alleleid]",
        "alleleId": 47338,
        "preferredName": "NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362419[alleleid]",
        "alleleId": 362419,
        "preferredName": "NP_000483.3:p.Ser549Arg"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=480441[alleleid]",
        "alleleId": 480441,
        "preferredName": "NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38733",
        "RCV": [
          "RCV000043664",
          "RCV000211346",
          "RCV000781222",
          "RCV001004464",
          "RCV001826533",
          "RCV002247407",
          "RCV003476914",
          "RCV003466883"
        ],
        "variationId": 38733
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40190",
        "RCV": [
          "RCV000056350",
          "RCV000211129",
          "RCV000508411",
          "RCV000763573",
          "RCV001004466",
          "RCV001826538",
          "RCV003473249"
        ],
        "variationId": 40190
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375610",
        "RCV": [
          "RCV000007538"
        ],
        "variationId": 375610
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/487375",
        "RCV": [
          "RCV000576753",
          "RCV002248790"
        ],
        "variationId": 487375
      }
    ]
  },
  "type": "amino-acid"
}