{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826954008",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 471,
          "referenceAllele": "D",
          "start": 470
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NP_001303242.1:p.Asp471Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234544",
          "hgvs": "NM_001316313.2:c.1413C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA364154032",
          "hgvs": "NM_001316313.2:c.1413C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167037"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177943[alleleid]",
        "alleleId": 177943,
        "preferredName": "NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167464",
        "RCV": [
          "RCV000153691",
          "RCV001083949",
          "RCV001831958",
          "RCV004551326"
        ],
        "variationId": 167464
      }
    ]
  },
  "type": "amino-acid"
}