{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645454042",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 809,
          "referenceAllele": "P",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002198",
      "geneNCBI_id": 1278,
      "geneSymbol": "COL1A2",
      "hgvs": [
        "NP_000080.2:p.Pro809Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4347447",
          "hgvs": "NM_000089.4:c.2425C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146641"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=425770[alleleid]",
        "alleleId": 425770,
        "preferredName": "NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/431901",
        "RCV": [
          "RCV000497839",
          "RCV000791269",
          "RCV000680488",
          "RCV001164726",
          "RCV001164727",
          "RCV002231166",
          "RCV003114623",
          "RCV002446967"
        ],
        "variationId": 431901
      }
    ]
  },
  "type": "amino-acid"
}