{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826954005",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 469,
          "referenceAllele": "N",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NP_001303242.1:p.Asn469Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3811267",
          "hgvs": "NM_001316313.2:c.1406A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167037"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=494209[alleleid]",
        "alleleId": 494209,
        "preferredName": "NM_000287.4(PEX6):c.1670A>G (p.Asn557Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/502786",
        "RCV": [
          "RCV000592165",
          "RCV001068866",
          "RCV001163662",
          "RCV001829689",
          "RCV004553344"
        ],
        "variationId": 502786
      }
    ]
  },
  "type": "amino-acid"
}