{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916014405",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 85,
          "referenceAllele": "T",
          "start": 84
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NP_001272971.1:p.Thr85Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252838",
          "hgvs": "NM_001286042.2:c.254C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2742038349",
          "hgvs": "NM_001286042.2:c.[243A>C;254C>T]"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163168"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18638[alleleid]",
        "alleleId": 18638,
        "preferredName": "NM_000016.6(ACADM):c.362C>T (p.Thr121Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3599",
        "RCV": [
          "RCV000003782",
          "RCV000185674",
          "RCV003924799"
        ],
        "variationId": 3599
      }
    ]
  },
  "type": "amino-acid"
}