{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916002680",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 481,
          "referenceAllele": "F",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000092",
      "geneNCBI_id": 37,
      "geneSymbol": "ACADVL",
      "hgvs": [
        "NP_001257376.1:p.Phe481Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA251907",
          "hgvs": "NM_001270447.2:c.1441T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397724980",
          "hgvs": "NM_001270447.2:c.1443C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397724981",
          "hgvs": "NM_001270447.2:c.1443C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160758"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16671[alleleid]",
        "alleleId": 16671,
        "preferredName": "NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1632",
        "RCV": [
          "RCV000001699",
          "RCV001731269",
          "RCV003914796"
        ],
        "variationId": 1632
      }
    ]
  },
  "type": "amino-acid"
}