{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825375596",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 48,
          "referenceAllele": "Y",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014377",
      "geneNCBI_id": 55651,
      "geneSymbol": "NHP2",
      "hgvs": [
        "NP_001030005.1:p.Tyr48Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3589279",
          "hgvs": "NM_001034833.2:c.143A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS149665"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=560390[alleleid]",
        "alleleId": 560390,
        "preferredName": "NM_017838.4(NHP2):c.143A>G (p.Tyr48Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/580763",
        "RCV": [
          "RCV000704403",
          "RCV002508251"
        ],
        "variationId": 580763
      }
    ]
  },
  "type": "amino-acid"
}