{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827614893",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 316,
          "referenceAllele": "P",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011802",
      "geneNCBI_id": 7072,
      "geneSymbol": "TIA1",
      "hgvs": [
        "NP_001338441.1:p.Pro316Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1697401",
          "hgvs": "NM_001351512.1:c.947C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617745"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=980520[alleleid]",
        "alleleId": 980520,
        "preferredName": "NM_022173.4(TIA1):c.1085C>T (p.Pro362Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/992595",
        "RCV": [
          "RCV001281089",
          "RCV001365839",
          "RCV003132375"
        ],
        "variationId": 992595
      }
    ]
  },
  "type": "amino-acid"
}