{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA234520",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 209,
          "referenceAllele": "M",
          "start": 208
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_000457.1:p.Met209Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234519",
          "hgvs": "NM_000466.3:c.627G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368200823",
          "hgvs": "NM_000466.3:c.627G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA368200826",
          "hgvs": "NM_000466.3:c.627G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147008"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177929[alleleid]",
        "alleleId": 177929,
        "preferredName": "NM_000466.3(PEX1):c.627G>A (p.Met209Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167445",
        "RCV": [
          "RCV000153672",
          "RCV000298239",
          "RCV001328780",
          "RCV001240934",
          "RCV001824124",
          "RCV002516087"
        ],
        "variationId": 167445
      }
    ]
  },
  "type": "amino-acid"
}