{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580445372",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 190,
          "referenceAllele": "L",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029565",
      "geneNCBI_id": 57171,
      "geneSymbol": "DOLPP1",
      "hgvs": [
        "NP_065171.2:p.Leu190Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5275150",
          "hgvs": "NM_020438.5:c.569T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2446794[alleleid]",
        "alleleId": 2446794,
        "preferredName": "NM_020438.5(DOLPP1):c.569T>G (p.Leu190Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2462742",
        "RCV": [
          "RCV004257654"
        ],
        "variationId": 2462742
      }
    ]
  },
  "type": "amino-acid"
}