{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139668597",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 117,
          "referenceAllele": "G",
          "start": 116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Gly117Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394696495",
          "hgvs": "NM_000303.3:c.349G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=682106[alleleid]",
        "alleleId": 682106,
        "preferredName": "NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/694260",
        "RCV": [
          "RCV001089469"
        ],
        "variationId": 694260
      }
    ]
  },
  "type": "amino-acid"
}