{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645428248",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 394,
          "referenceAllele": "Y",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004198",
      "geneNCBI_id": 9247,
      "geneSymbol": "GCM2",
      "hgvs": [
        "NP_004743.1:p.Tyr394Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3633934",
          "hgvs": "NM_004752.4:c.1181A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170440"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=298705[alleleid]",
        "alleleId": 298705,
        "preferredName": "NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/355008",
        "RCV": [
          "RCV000379467",
          "RCV000417069",
          "RCV001861265",
          "RCV002487551",
          "RCV002248625"
        ],
        "variationId": 355008
      }
    ]
  },
  "type": "amino-acid"
}