{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645478127",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 271,
          "referenceAllele": "Y",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NP_000118.2:p.Tyr271Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16618590",
          "hgvs": "NM_000127.3:c.812A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146677"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407299[alleleid]",
        "alleleId": 407299,
        "preferredName": "NM_000127.3(EXT1):c.812A>G (p.Tyr271Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419313",
        "RCV": [
          "RCV000486275",
          "RCV003497852"
        ],
        "variationId": 419313
      }
    ]
  },
  "type": "amino-acid"
}