{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3057471942",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 264,
          "referenceAllele": "R",
          "start": 263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030391",
      "geneNCBI_id": 26160,
      "geneSymbol": "IFT172",
      "hgvs": [
        "NP_056477.1:p.Arg264Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA44515401",
          "hgvs": "NM_015662.3:c.791G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174709"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3717080[alleleid]",
        "alleleId": 3717080,
        "preferredName": "NM_015662.3(IFT172):c.791G>T (p.Arg264Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3586371",
        "RCV": [
          "RCV005020950"
        ],
        "variationId": 3586371
      }
    ]
  },
  "type": "amino-acid"
}