{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825805425",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 144,
          "referenceAllele": "Y",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009325",
      "geneNCBI_id": 5538,
      "geneSymbol": "PPT1",
      "hgvs": [
        "NP_001136076.1:p.Tyr144His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263546",
          "hgvs": "NM_001142604.2:c.430T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153469"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70853[alleleid]",
        "alleleId": 70853,
        "preferredName": "NM_000310.4(PPT1):c.739T>C (p.Tyr247His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56214",
        "RCV": [
          "RCV000049625",
          "RCV000726872",
          "RCV003317068"
        ],
        "variationId": 56214
      }
    ]
  },
  "type": "amino-acid"
}