{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099979",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1484,
          "referenceAllele": "S",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017175",
      "geneNCBI_id": 51196,
      "geneSymbol": "PLCE1",
      "hgvs": [
        "NP_057425.3:p.Ser1484Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA115498",
          "hgvs": "NM_016341.4:c.4451C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175163"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17389[alleleid]",
        "alleleId": 17389,
        "preferredName": "NM_016341.4(PLCE1):c.4451C>T (p.Ser1484Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2350",
        "RCV": [
          "RCV000002441"
        ],
        "variationId": 2350
      }
    ]
  },
  "type": "amino-acid"
}