{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA123382",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 141,
          "referenceAllele": "D",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009461",
      "geneNCBI_id": 5630,
      "geneSymbol": "PRPH",
      "hgvs": [
        "NP_006253.2:p.Asp141Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA123381",
          "hgvs": "NM_006262.4:c.421G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171820"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=28746[alleleid]",
        "alleleId": 28746,
        "preferredName": "NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/13707",
        "RCV": [
          "RCV000014706",
          "RCV000057167",
          "RCV000523206",
          "RCV003964802"
        ],
        "variationId": 13707
      }
    ]
  },
  "type": "amino-acid"
}