{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826954393",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 851,
          "referenceAllele": "P",
          "start": 850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008859",
      "geneNCBI_id": 5190,
      "geneSymbol": "PEX6",
      "hgvs": [
        "NP_001303242.1:p.Pro851Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA146010",
          "hgvs": "NM_001316313.2:c.2552C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA138220898",
          "hgvs": "NM_001316313.2:c.2550_2552delinsACA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167037"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=98694[alleleid]",
        "alleleId": 98694,
        "preferredName": "NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2735534[alleleid]",
        "alleleId": 2735534,
        "preferredName": "NM_000287.4(PEX6):c.2814_2816delinsACA (p.Pro939Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/92787",
        "RCV": [
          "RCV000078574",
          "RCV000407233",
          "RCV000586703",
          "RCV001274620",
          "RCV001543723",
          "RCV001520392",
          "RCV001543724"
        ],
        "variationId": 92787
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2570594",
        "RCV": [
          "RCV003246688"
        ],
        "variationId": 2570594
      }
    ]
  },
  "type": "amino-acid"
}