{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916062204",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 271,
          "referenceAllele": "P",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023147",
      "geneNCBI_id": 201294,
      "geneSymbol": "UNC13D",
      "hgvs": [
        "NP_954712.1:p.Pro271Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8773269",
          "hgvs": "NM_199242.3:c.811C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185394"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=727449[alleleid]",
        "alleleId": 727449,
        "preferredName": "NM_199242.3(UNC13D):c.811C>T (p.Pro271Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/719448",
        "RCV": [
          "RCV000892592",
          "RCV001818675",
          "RCV002264053",
          "RCV003968148"
        ],
        "variationId": 719448
      }
    ]
  },
  "type": "amino-acid"
}