{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916013769",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "E",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_001269606.1:p.Glu958Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4340908",
          "hgvs": "NM_001282677.2:c.2873A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162615"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274209[alleleid]",
        "alleleId": 274209,
        "preferredName": "NM_000466.3(PEX1):c.3044A>C (p.Glu1015Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/289972",
        "RCV": [
          "RCV000332762",
          "RCV001240865",
          "RCV002480047",
          "RCV004021294"
        ],
        "variationId": 289972
      }
    ]
  },
  "type": "amino-acid"
}