{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA093626",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 41,
          "referenceAllele": "T",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014604",
      "geneNCBI_id": 81693,
      "geneSymbol": "AMN",
      "hgvs": [
        "NP_112205.2:p.Thr41Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117064",
          "hgvs": "NM_030943.4:c.122C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179027"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19809[alleleid]",
        "alleleId": 19809,
        "preferredName": "NM_030943.4(AMN):c.122C>T (p.Thr41Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4770",
        "RCV": [
          "RCV000005036",
          "RCV001851660"
        ],
        "variationId": 4770
      }
    ]
  },
  "type": "amino-acid"
}