{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139691847",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 512,
          "referenceAllele": "S",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NP_001257376.1:p.Ser512Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8338121",
          "hgvs": "NM_001270447.2:c.1536T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397725183",
          "hgvs": "NM_001270447.2:c.1534A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397725189",
          "hgvs": "NM_001270447.2:c.1536T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160758"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=921137[alleleid]",
        "alleleId": 921137,
        "preferredName": "NM_000018.4(ACADVL):c.1467T>G (p.Ser489Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/932810",
        "RCV": [
          "RCV001200760",
          "RCV002509626"
        ],
        "variationId": 932810
      }
    ]
  },
  "type": "amino-acid"
}