{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830097338",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 342,
          "referenceAllele": "G",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002200",
      "geneNCBI_id": 1280,
      "geneSymbol": "COL2A1",
      "hgvs": [
        "NP_149162.2:p.Gly342Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA384554252",
          "hgvs": "NM_033150.3:c.1025G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180088"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1324495[alleleid]",
        "alleleId": 1324495,
        "preferredName": "NM_001844.5(COL2A1):c.1232G>A (p.Gly411Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1333725",
        "RCV": [
          "RCV001808940"
        ],
        "variationId": 1333725
      }
    ]
  },
  "type": "amino-acid"
}