{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499247135",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 202,
          "referenceAllele": "L",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "NP_001289483.1:p.Leu202Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6830986",
          "hgvs": "NM_001302554.1:c.605T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165768"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1178939[alleleid]",
        "alleleId": 1178939,
        "preferredName": "NM_000017.4(ACADS):c.625-99T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1188992",
        "RCV": [
          "RCV001549202",
          "RCV001713036"
        ],
        "variationId": 1188992
      }
    ]
  },
  "type": "amino-acid"
}