{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916014417",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 182,
          "referenceAllele": "M",
          "start": 181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000089",
      "geneNCBI_id": 34,
      "geneSymbol": "ACADM",
      "hgvs": [
        "NP_001272972.1:p.Met182Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA252830",
          "hgvs": "NM_001286043.2:c.546G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA913107",
          "hgvs": "NM_001286043.2:c.546G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA340812971",
          "hgvs": "NM_001286043.2:c.546G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163169"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18630[alleleid]",
        "alleleId": 18630,
        "preferredName": "NM_000016.6(ACADM):c.447G>A (p.Met149Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227877[alleleid]",
        "alleleId": 227877,
        "preferredName": "NM_000016.6(ACADM):c.447G>T (p.Met149Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3591",
        "RCV": [
          "RCV000003774",
          "RCV000723823",
          "RCV003398435"
        ],
        "variationId": 3591
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226059",
        "RCV": [
          "RCV000211526"
        ],
        "variationId": 226059
      }
    ]
  },
  "type": "amino-acid"
}