{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA915992284",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 50,
          "referenceAllele": "R",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "NP_003650.1:p.Arg50Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1980012",
          "hgvs": "NM_003659.4:c.148C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169431"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=707864[alleleid]",
        "alleleId": 707864,
        "preferredName": "NM_003659.4(AGPS):c.148C>T (p.Arg50Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/790910",
        "RCV": [
          "RCV000973782",
          "RCV001002207",
          "RCV001276316"
        ],
        "variationId": 790910
      }
    ]
  },
  "type": "amino-acid"
}