{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA104585",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 617,
          "referenceAllele": "F",
          "start": 616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006697",
      "geneNCBI_id": 4041,
      "geneSymbol": "LRP5",
      "hgvs": [
        "NP_002326.2:p.Phe617Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA224268235",
          "hgvs": "NM_002335.4:c.1850T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168192"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3706809[alleleid]",
        "alleleId": 3706809,
        "preferredName": "NM_002335.4(LRP5):c.1850T>G (p.Phe617Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3600203",
        "RCV": [
          "RCV005051151"
        ],
        "variationId": 3600203
      }
    ]
  },
  "type": "amino-acid"
}