{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645486908",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 249,
          "referenceAllele": "F",
          "start": 248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007529",
      "geneNCBI_id": 4597,
      "geneSymbol": "MVD",
      "hgvs": [
        "NP_002452.1:p.Phe249Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8228757",
          "hgvs": "NM_002461.3:c.746T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168311"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247450[alleleid]",
        "alleleId": 247450,
        "preferredName": "NM_002461.3(MVD):c.746T>C (p.Phe249Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253039",
        "RCV": [
          "RCV000239486"
        ],
        "variationId": 253039
      }
    ]
  },
  "type": "amino-acid"
}