{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573301110",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 831,
          "referenceAllele": "S",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002187",
      "geneNCBI_id": 1302,
      "geneSymbol": "COL11A2",
      "hgvs": [
        "NP_542411.2:p.Ser831Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3750872",
          "hgvs": "NM_080680.3:c.2492C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180760"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1643596[alleleid]",
        "alleleId": 1643596,
        "preferredName": "NM_080680.3(COL11A2):c.2492C>T (p.Ser831Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1592134",
        "RCV": [
          "RCV002122169"
        ],
        "variationId": 1592134
      }
    ]
  },
  "type": "amino-acid"
}