{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA112520",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 176,
          "referenceAllele": "L",
          "start": 175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009154",
      "geneNCBI_id": 11284,
      "geneSymbol": "PNKP",
      "hgvs": [
        "NP_009185.2:p.Leu176Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250517",
          "hgvs": "NM_007254.4:c.526C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172711"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19887[alleleid]",
        "alleleId": 19887,
        "preferredName": "NM_007254.4(PNKP):c.526C>T (p.Leu176Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4848",
        "RCV": [
          "RCV000005121"
        ],
        "variationId": 4848
      }
    ]
  },
  "type": "amino-acid"
}