{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825935548",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "F",
          "end": 171,
          "referenceAllele": "I",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NP_001153245.1:p.Ile171Phe"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA294812355",
          "hgvs": "NM_001159773.2:c.511A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154550"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=434881[alleleid]",
        "alleleId": 434881,
        "preferredName": "NM_001159773.2(CANT1):c.511A>T (p.Ile171Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/441248",
        "RCV": [
          "RCV000509575",
          "RCV001291039",
          "RCV001363761"
        ],
        "variationId": 441248
      }
    ]
  },
  "type": "amino-acid"
}