{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA150604",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 241,
          "referenceAllele": "G",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029262",
      "geneNCBI_id": 57560,
      "geneSymbol": "IFT80",
      "hgvs": [
        "NP_065851.1:p.Gly241Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA150603",
          "hgvs": "NM_020800.3:c.721G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2685388",
          "hgvs": "NM_020800.3:c.721G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177123"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106537[alleleid]",
        "alleleId": 106537,
        "preferredName": "NM_020800.3(IFT80):c.721G>A (p.Gly241Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=393400[alleleid]",
        "alleleId": 393400,
        "preferredName": "NM_020800.3(IFT80):c.721G>C (p.Gly241Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100665",
        "RCV": [
          "RCV000087065"
        ],
        "variationId": 100665
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/406218",
        "RCV": [
          "RCV000474945",
          "RCV000516104",
          "RCV000727148",
          "RCV003103777"
        ],
        "variationId": 406218
      }
    ]
  },
  "type": "amino-acid"
}