{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA341974",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 412,
          "referenceAllele": "N",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NP_003218.2:p.Asn412del"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA341972",
          "hgvs": "NM_003227.4:c.1235_1237del"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169032"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34215[alleleid]",
        "alleleId": 34215,
        "preferredName": "NM_003227.4(TFR2):c.1232ACA[1] (p.Asn412del)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21363",
        "RCV": [
          "RCV000020535"
        ],
        "variationId": 21363
      }
    ]
  },
  "type": "amino-acid"
}