{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580115430",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 202,
          "referenceAllele": "P",
          "start": 201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NP_000382.3:p.Pro202His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA379475472",
          "hgvs": "NM_000391.4:c.605C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2084782[alleleid]",
        "alleleId": 2084782,
        "preferredName": "NM_000391.4(TPP1):c.605C>A (p.Pro202His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2026862",
        "RCV": [
          "RCV002871575"
        ],
        "variationId": 2026862
      }
    ]
  },
  "type": "amino-acid"
}