{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499228653",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 343,
          "referenceAllele": "G",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NP_000118.2:p.Gly343Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA371893272",
          "hgvs": "NM_000127.3:c.1027G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA371893273",
          "hgvs": "NM_000127.3:c.1027G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146677"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1061206[alleleid]",
        "alleleId": 1061206,
        "preferredName": "NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4406441[alleleid]",
        "alleleId": 4406441,
        "preferredName": "NM_000127.3(EXT1):c.1027G>C (p.Gly343Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1071749",
        "RCV": [
          "RCV001384286",
          "RCV002290702"
        ],
        "variationId": 1071749
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4293914",
        "RCV": [
          "RCV005882736"
        ],
        "variationId": 4293914
      }
    ]
  },
  "type": "amino-acid"
}