{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827141908",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 156,
          "referenceAllele": "S",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NP_001308979.1:p.Ser156Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252013",
          "hgvs": "NM_001322050.2:c.467C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS648410"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=17010[alleleid]",
        "alleleId": 17010,
        "preferredName": "NM_000022.4(ADA):c.872C>T (p.Ser291Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1971",
        "RCV": [
          "RCV000002048",
          "RCV000788574"
        ],
        "variationId": 1971
      }
    ]
  },
  "type": "amino-acid"
}