{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829771866",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 337,
          "referenceAllele": "R",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029059",
      "geneNCBI_id": 23096,
      "geneSymbol": "IQSEC2",
      "hgvs": [
        "NP_055890.1:p.Arg337Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10420030",
          "hgvs": "NM_015075.1:c.1010G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS174256"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=650117[alleleid]",
        "alleleId": 650117,
        "preferredName": "NM_001111125.3(IQSEC2):c.1625G>T (p.Arg542Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/660198",
        "RCV": [
          "RCV000817336"
        ],
        "variationId": 660198
      }
    ]
  },
  "type": "amino-acid"
}