{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA130938",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 51,
          "referenceAllele": "L",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029521",
      "geneNCBI_id": 113246,
      "geneSymbol": "C12orf57",
      "hgvs": [
        "NP_612434.1:p.Leu51Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA130937",
          "hgvs": "NM_138425.4:c.152T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181238"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51109[alleleid]",
        "alleleId": 51109,
        "preferredName": "NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41943",
        "RCV": [
          "RCV000034853"
        ],
        "variationId": 41943
      }
    ]
  },
  "type": "amino-acid"
}