{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645479104",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 239,
          "referenceAllele": "T",
          "start": 238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003680",
      "geneNCBI_id": 8074,
      "geneSymbol": "FGF23",
      "hgvs": [
        "NP_065689.1:p.Thr239Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6395616",
          "hgvs": "NM_020638.3:c.716C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176990"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=330952[alleleid]",
        "alleleId": 330952,
        "preferredName": "NM_020638.3(FGF23):c.716C>T (p.Thr239Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/308803",
        "RCV": [
          "RCV000262068",
          "RCV000321863",
          "RCV000518652",
          "RCV001511037"
        ],
        "variationId": 308803
      }
    ]
  },
  "type": "amino-acid"
}