{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3079289730",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24,
          "referenceAllele": "Y",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024890",
      "geneNCBI_id": 83468,
      "geneSymbol": "GLT8D2",
      "hgvs": [
        "NP_112592.1:p.Tyr24Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6754786",
          "hgvs": "NM_031302.5:c.71A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179118"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4489657[alleleid]",
        "alleleId": 4489657,
        "preferredName": "NM_001384711.1(GLT8D2):c.71A>G (p.Tyr24Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4378901",
        "RCV": [
          "RCV006057466",
          "RCV006057465",
          "RCV006057467",
          "RCV006057472",
          "RCV006057468",
          "RCV006057469",
          "RCV006057470",
          "RCV006057471",
          "RCV006057464"
        ],
        "variationId": 4378901
      }
    ]
  },
  "type": "amino-acid"
}