{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA221048",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 520,
          "referenceAllele": "W",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NP_000503.1:p.Trp520Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA221047",
          "hgvs": "NM_000512.5:c.1558T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397092452",
          "hgvs": "NM_000512.5:c.1558T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147047"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99077[alleleid]",
        "alleleId": 99077,
        "preferredName": "NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93170",
        "RCV": [
          "RCV000079028",
          "RCV001578461"
        ],
        "variationId": 93170
      }
    ]
  },
  "type": "amino-acid"
}