{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA085484",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46,
          "referenceAllele": "R",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009081",
      "geneNCBI_id": 5351,
      "geneSymbol": "PLOD1",
      "hgvs": [
        "NP_000293.2:p.Arg46Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA085481",
          "hgvs": "NM_000302.4:c.136C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146848"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=215016[alleleid]",
        "alleleId": 215016,
        "preferredName": "NM_000302.4(PLOD1):c.136C>T (p.Arg46Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/242450",
        "RCV": [
          "RCV001555764",
          "RCV001854839",
          "RCV002379035"
        ],
        "variationId": 242450
      }
    ]
  },
  "type": "amino-acid"
}