{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA220985",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 225,
          "referenceAllele": "I",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008850",
      "geneNCBI_id": 5189,
      "geneSymbol": "PEX1",
      "hgvs": [
        "NP_000457.1:p.Ile225Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA220984",
          "hgvs": "NM_000466.3:c.674T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147008"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99021[alleleid]",
        "alleleId": 99021,
        "preferredName": "NM_000466.3(PEX1):c.674T>A (p.Ile225Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93114",
        "RCV": [
          "RCV000078930",
          "RCV001246411"
        ],
        "variationId": 93114
      }
    ]
  },
  "type": "amino-acid"
}