{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA114234",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 138,
          "referenceAllele": "C",
          "start": 137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004367",
      "geneNCBI_id": 2760,
      "geneSymbol": "GM2A",
      "hgvs": [
        "NP_001161079.1:p.Cys138Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA114233",
          "hgvs": "NM_001167607.3:c.412T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS155435"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15429[alleleid]",
        "alleleId": 15429,
        "preferredName": "NM_000405.5(GM2A):c.412T>C (p.Cys138Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/390",
        "RCV": [
          "RCV000000421"
        ],
        "variationId": 390
      }
    ]
  },
  "type": "amino-acid"
}