{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916013952",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NP_001269683.1:p.Gly553Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16621328",
          "hgvs": "NM_001282754.2:c.1658G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162691"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=411281[alleleid]",
        "alleleId": 411281,
        "preferredName": "NM_000444.6(PHEX):c.1658G>A (p.Gly553Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/420130",
        "RCV": [
          "RCV000478030"
        ],
        "variationId": 420130
      }
    ]
  },
  "type": "amino-acid"
}