{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830387814",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 110,
          "referenceAllele": "S",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011577",
      "geneNCBI_id": 6901,
      "geneSymbol": "TAFAZZIN",
      "hgvs": [
        "NP_851830.1:p.Ser110Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA261280",
          "hgvs": "NM_181313.4:c.328T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184191"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51425[alleleid]",
        "alleleId": 51425,
        "preferredName": "NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42255",
        "RCV": [
          "RCV000035088"
        ],
        "variationId": 42255
      }
    ]
  },
  "type": "amino-acid"
}