{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645377176",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 438,
          "referenceAllele": "L",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NP_000435.3:p.Leu438Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043231",
          "hgvs": "NM_000444.6:c.1313T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146987"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360593[alleleid]",
        "alleleId": 360593,
        "preferredName": "NM_000444.6(PHEX):c.1313T>C (p.Leu438Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372646",
        "RCV": [
          "RCV000413016"
        ],
        "variationId": 372646
      }
    ]
  },
  "type": "amino-acid"
}