{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826602217",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 213,
          "referenceAllele": "P",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NP_001269096.1:p.Pro213Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412847038",
          "hgvs": "NM_001282167.2:c.638C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162247"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972737[alleleid]",
        "alleleId": 972737,
        "preferredName": "NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984654",
        "RCV": [
          "RCV001264757"
        ],
        "variationId": 984654
      }
    ]
  },
  "type": "amino-acid"
}