{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826178129",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 485,
          "referenceAllele": "S",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020347",
      "geneNCBI_id": 63894,
      "geneSymbol": "VIPAS39",
      "hgvs": [
        "NP_001180243.1:p.Ser485Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7287709",
          "hgvs": "NM_001193314.2:c.1455C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390696012",
          "hgvs": "NM_001193314.2:c.1455C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA390696017",
          "hgvs": "NM_001193314.2:c.1453A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS156807"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=490107[alleleid]",
        "alleleId": 490107,
        "preferredName": "NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/498683",
        "RCV": [
          "RCV000594831",
          "RCV000765181",
          "RCV003915706"
        ],
        "variationId": 498683
      }
    ]
  },
  "type": "amino-acid"
}