{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA322067",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 507,
          "referenceAllele": "A",
          "start": 506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023166",
      "geneNCBI_id": 87178,
      "geneSymbol": "PNPT1",
      "hgvs": [
        "NP_149100.2:p.Ala507Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA322066",
          "hgvs": "NM_033109.5:c.1519G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=210875[alleleid]",
        "alleleId": 210875,
        "preferredName": "NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/215010",
        "RCV": [
          "RCV000197606",
          "RCV000680151",
          "RCV000787360",
          "RCV001089488",
          "RCV001266860",
          "RCV003152598",
          "RCV003147399"
        ],
        "variationId": 215010
      }
    ]
  },
  "type": "amino-acid"
}