{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826872090",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 349,
          "referenceAllele": "S",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000090",
      "geneNCBI_id": 35,
      "geneSymbol": "ACADS",
      "hgvs": [
        "NP_001289483.1:p.Ser349Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252888",
          "hgvs": "NM_001302554.1:c.1046C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS165768"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18875[alleleid]",
        "alleleId": 18875,
        "preferredName": "NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3836",
        "RCV": [
          "RCV000004040",
          "RCV000185693"
        ],
        "variationId": 3836
      }
    ]
  },
  "type": "amino-acid"
}