{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103173",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 422,
          "referenceAllele": "Q",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002073",
      "geneNCBI_id": 1200,
      "geneSymbol": "TPP1",
      "hgvs": [
        "NP_000382.3:p.Gln422His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA266181",
          "hgvs": "NM_000391.4:c.1266G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA379472856",
          "hgvs": "NM_000391.4:c.1266G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146934"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=79630[alleleid]",
        "alleleId": 79630,
        "preferredName": "NM_000391.4(TPP1):c.1266G>C (p.Gln422His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/68738",
        "RCV": [
          "RCV000059620",
          "RCV000189782",
          "RCV000210643",
          "RCV000529451",
          "RCV001252369"
        ],
        "variationId": 68738
      }
    ]
  },
  "type": "amino-acid"
}