{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916071326",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 140,
          "referenceAllele": "S",
          "start": 139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004136",
      "geneNCBI_id": 2593,
      "geneSymbol": "GAMT",
      "hgvs": [
        "NP_620279.1:p.Ser140Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA9043666",
          "hgvs": "NM_138924.3:c.419C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181425"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=348219[alleleid]",
        "alleleId": 348219,
        "preferredName": "NM_000156.6(GAMT):c.419C>T (p.Ser140Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/328347",
        "RCV": [
          "RCV000353046",
          "RCV001726120",
          "RCV001850747"
        ],
        "variationId": 328347
      }
    ]
  },
  "type": "amino-acid"
}