{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573194271",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 459,
          "referenceAllele": "A",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NP_001269683.1:p.Ala459Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412574705",
          "hgvs": "NM_001282754.2:c.1376C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162691"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671813[alleleid]",
        "alleleId": 1671813,
        "preferredName": "NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679896",
        "RCV": [
          "RCV002227912"
        ],
        "variationId": 1679896
      }
    ]
  },
  "type": "amino-acid"
}