{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA109472",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 612,
          "referenceAllele": "W",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NP_000293.2:p.Trp612Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA281017",
          "hgvs": "NM_000302.4:c.1836G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA338450088",
          "hgvs": "NM_000302.4:c.1836G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146848"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29411[alleleid]",
        "alleleId": 29411,
        "preferredName": "NM_000302.4(PLOD1):c.1836G>C (p.Trp612Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14372",
        "RCV": [
          "RCV000015449"
        ],
        "variationId": 14372
      }
    ]
  },
  "type": "amino-acid"
}