{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA129580",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "W",
          "end": 46,
          "referenceAllele": "R",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000417",
      "geneNCBI_id": 229,
      "geneSymbol": "ALDOB",
      "hgvs": [
        "NP_000026.2:p.Arg46Trp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129579",
          "hgvs": "NM_000035.4:c.136A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146588"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39936[alleleid]",
        "alleleId": 39936,
        "preferredName": "NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/30979",
        "RCV": [
          "RCV000023970",
          "RCV000728543",
          "RCV001804747",
          "RCV003415737"
        ],
        "variationId": 30979
      }
    ]
  },
  "type": "amino-acid"
}