{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645475925",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 64,
          "referenceAllele": "R",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018121",
      "geneNCBI_id": 83552,
      "geneSymbol": "MFRP",
      "hgvs": [
        "NP_113621.1:p.Arg64Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6320668",
          "hgvs": "NM_031433.4:c.190C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179155"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=325769[alleleid]",
        "alleleId": 325769,
        "preferredName": "NM_031433.4(MFRP):c.190C>T (p.Arg64Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/302979",
        "RCV": [
          "RCV000263849",
          "RCV000376626",
          "RCV003258750",
          "RCV001107271"
        ],
        "variationId": 302979
      }
    ]
  },
  "type": "amino-acid"
}