{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916013795",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 887,
          "referenceAllele": "D",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_001269607.1:p.Asp887Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4340856",
          "hgvs": "NM_001282678.2:c.2659G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=494120[alleleid]",
        "alleleId": 494120,
        "preferredName": "NM_000466.3(PEX1):c.3283G>A (p.Asp1095Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/502697",
        "RCV": [
          "RCV000597351",
          "RCV002272300",
          "RCV002476342",
          "RCV002532681"
        ],
        "variationId": 502697
      }
    ]
  },
  "type": "amino-acid"
}