{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109998",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 253,
          "referenceAllele": "M",
          "start": 252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008918",
      "geneNCBI_id": 5251,
      "geneSymbol": "PHEX",
      "hgvs": [
        "NP_000435.3:p.Met253Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353715",
          "hgvs": "NM_000444.6:c.759G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412572313",
          "hgvs": "NM_000444.6:c.759G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA412572314",
          "hgvs": "NM_000444.6:c.759G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146987"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38453[alleleid]",
        "alleleId": 38453,
        "preferredName": "NM_000444.6(PHEX):c.759G>A (p.Met253Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242724",
        "RCV": [
          "RCV001857787"
        ],
        "variationId": 242724
      }
    ]
  },
  "type": "amino-acid"
}