{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830481803",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 328,
          "referenceAllele": "Y",
          "start": 327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017652",
      "geneNCBI_id": 64840,
      "geneSymbol": "PORCN",
      "hgvs": [
        "NP_982300.1:p.Tyr328Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA412848495",
          "hgvs": "NM_203474.1:c.983A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185741"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983863[alleleid]",
        "alleleId": 983863,
        "preferredName": "NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996151",
        "RCV": [
          "RCV001290441"
        ],
        "variationId": 996151
      }
    ]
  },
  "type": "amino-acid"
}