{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826516886",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 507,
          "referenceAllele": "S",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NP_001257377.1:p.Ser507Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA397725788",
          "hgvs": "NM_001270448.2:c.1520C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160759"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=548713[alleleid]",
        "alleleId": 548713,
        "preferredName": "NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/550315",
        "RCV": [
          "RCV000665031"
        ],
        "variationId": 550315
      }
    ]
  },
  "type": "amino-acid"
}