{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825411213",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 268,
          "referenceAllele": "P",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029932",
      "geneNCBI_id": 80347,
      "geneSymbol": "COASY",
      "hgvs": [
        "NP_001035994.1:p.Pro268Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8578063",
          "hgvs": "NM_001042529.3:c.802C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS150212"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=704148[alleleid]",
        "alleleId": 704148,
        "preferredName": "NM_025233.7(COASY):c.802C>T (p.Pro268Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/767101",
        "RCV": [
          "RCV000945755",
          "RCV001779094",
          "RCV003925855"
        ],
        "variationId": 767101
      }
    ]
  },
  "type": "amino-acid"
}