{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827293479",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 12,
          "referenceAllele": "R",
          "start": 11
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025018",
      "geneNCBI_id": 51259,
      "geneSymbol": "TMEM216",
      "hgvs": [
        "NP_001317214.1:p.Arg12Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA339800",
          "hgvs": "NM_001330285.2:c.35G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625286"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15236[alleleid]",
        "alleleId": 15236,
        "preferredName": "NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/197",
        "RCV": [
          "RCV000000220",
          "RCV000255378",
          "RCV000409114",
          "RCV000465185",
          "RCV000624413",
          "RCV000779066",
          "RCV001787358"
        ],
        "variationId": 197
      }
    ]
  },
  "type": "amino-acid"
}