{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA211322",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 57,
          "referenceAllele": "E",
          "start": 56
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003999",
      "geneNCBI_id": 2512,
      "geneSymbol": "FTL",
      "hgvs": [
        "NP_000137.2:p.Glu57Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA211321",
          "hgvs": "NM_000146.4:c.169G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146696"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=166212[alleleid]",
        "alleleId": 166212,
        "preferredName": "NM_000146.4(FTL):c.169G>A (p.Glu57Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/156439",
        "RCV": [
          "RCV000144502",
          "RCV000311515",
          "RCV000395171",
          "RCV000861621",
          "RCV003103735",
          "RCV003323416"
        ],
        "variationId": 156439
      }
    ]
  },
  "type": "amino-acid"
}