{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645478140",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 427,
          "referenceAllele": "L",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003512",
      "geneNCBI_id": 2131,
      "geneSymbol": "EXT1",
      "hgvs": [
        "NP_000118.2:p.Leu427Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4854193",
          "hgvs": "NM_000127.3:c.1279C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146677"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=369682[alleleid]",
        "alleleId": 369682,
        "preferredName": "NM_000127.3(EXT1):c.1279C>G (p.Leu427Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/387595",
        "RCV": [
          "RCV000432157",
          "RCV001214391",
          "RCV002522378"
        ],
        "variationId": 387595
      }
    ]
  },
  "type": "amino-acid"
}