{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826665831",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 635,
          "referenceAllele": "G",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_001269607.1:p.Gly635Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220977",
          "hgvs": "NM_001282678.2:c.1904G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162616"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22555[alleleid]",
        "alleleId": 22555,
        "preferredName": "NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7516",
        "RCV": [
          "RCV000007946",
          "RCV000022416",
          "RCV000032927",
          "RCV000078922",
          "RCV000345695",
          "RCV000661947",
          "RCV000763596",
          "RCV000791271",
          "RCV001004322",
          "RCV001074120",
          "RCV001376560",
          "RCV001266794",
          "RCV001731280",
          "RCV003398462"
        ],
        "variationId": 7516
      }
    ]
  },
  "type": "amino-acid"
}