{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826997698",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 180,
          "referenceAllele": "S",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017192",
      "geneNCBI_id": 114609,
      "geneSymbol": "TIRAP",
      "hgvs": [
        "NP_001305706.1:p.Ser180Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116876",
          "hgvs": "NM_001318777.2:c.539C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660144"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19506[alleleid]",
        "alleleId": 19506,
        "preferredName": "NM_001318777.2(TIRAP):c.539C>T (p.Ser180Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4467",
        "RCV": [
          "RCV000004722",
          "RCV000004723",
          "RCV000004724",
          "RCV000023527",
          "RCV001723536",
          "RCV002490312",
          "RCV003488326"
        ],
        "variationId": 4467
      }
    ]
  },
  "type": "amino-acid"
}