{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109673",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 241,
          "referenceAllele": "C",
          "start": 240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009115",
      "geneNCBI_id": 5373,
      "geneSymbol": "PMM2",
      "hgvs": [
        "NP_000294.1:p.Cys241Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234698",
          "hgvs": "NM_000303.3:c.722G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA394689686",
          "hgvs": "NM_000303.3:c.721T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146849"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22756[alleleid]",
        "alleleId": 22756,
        "preferredName": "NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7717",
        "RCV": [
          "RCV000008156",
          "RCV000153745",
          "RCV000623621"
        ],
        "variationId": 7717
      }
    ]
  },
  "type": "amino-acid"
}