{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645453925",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 391,
          "referenceAllele": "G",
          "start": 390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NP_000080.2:p.Gly391Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA162921172",
          "hgvs": "NM_000089.4:c.1171G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=413957[alleleid]",
        "alleleId": 413957,
        "preferredName": "NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/425645",
        "RCV": [
          "RCV000490690",
          "RCV001575452",
          "RCV002279259",
          "RCV001778978",
          "RCV002230965"
        ],
        "variationId": 425645
      }
    ]
  },
  "type": "amino-acid"
}