{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645465474",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 289,
          "referenceAllele": "S",
          "start": 288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029077",
      "geneNCBI_id": 9742,
      "geneSymbol": "IFT140",
      "hgvs": [
        "NP_055529.2:p.Ser289Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7814525",
          "hgvs": "NM_014714.4:c.867C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394217584",
          "hgvs": "NM_014714.4:c.867C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394217594",
          "hgvs": "NM_014714.4:c.865A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173937"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=340776[alleleid]",
        "alleleId": 340776,
        "preferredName": "NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/318200",
        "RCV": [
          "RCV000281495",
          "RCV003165857",
          "RCV002487403"
        ],
        "variationId": 318200
      }
    ]
  },
  "type": "amino-acid"
}