{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916013666",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 8,
          "referenceAllele": "A",
          "start": 7
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_001269606.1:p.Ala8Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4341705",
          "hgvs": "NM_001282677.2:c.23C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=585123[alleleid]",
        "alleleId": 585123,
        "preferredName": "NM_000466.3(PEX1):c.23C>A (p.Ala8Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/594060",
        "RCV": [
          "RCV000729269",
          "RCV002535112"
        ],
        "variationId": 594060
      }
    ]
  },
  "type": "amino-acid"
}