{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA238700",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 2,
          "referenceAllele": "L",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025018",
      "geneNCBI_id": 51259,
      "geneSymbol": "TMEM216",
      "hgvs": [
        "NP_001167462.1:p.Leu2Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA238698",
          "hgvs": "NM_001173991.3:c.5T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156102"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=190354[alleleid]",
        "alleleId": 190354,
        "preferredName": "NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193189",
        "RCV": [
          "RCV000173235",
          "RCV000345023",
          "RCV000391281",
          "RCV001094053",
          "RCV004535185"
        ],
        "variationId": 193189
      }
    ]
  },
  "type": "amino-acid"
}