{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA891845839",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 20,
          "referenceAllele": "W",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NP_000147.1:p.Trp20Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA402998326",
          "hgvs": "NM_000156.6:c.59G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146706"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=580386[alleleid]",
        "alleleId": 580386,
        "preferredName": "NM_000156.6(GAMT):c.59G>T (p.Trp20Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/588631",
        "RCV": [
          "RCV001051211",
          "RCV002307606",
          "RCV002313571",
          "RCV003334006"
        ],
        "variationId": 588631
      }
    ]
  },
  "type": "amino-acid"
}