{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825935585",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 226,
          "referenceAllele": "V",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019721",
      "geneNCBI_id": 124583,
      "geneSymbol": "CANT1",
      "hgvs": [
        "NP_001153245.1:p.Val226Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA129624",
          "hgvs": "NM_001159773.2:c.676G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS154550"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=39975[alleleid]",
        "alleleId": 39975,
        "preferredName": "NM_001159773.2(CANT1):c.676G>A (p.Val226Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31018",
        "RCV": [
          "RCV000024010",
          "RCV000509573",
          "RCV001380267"
        ],
        "variationId": 31018
      }
    ]
  },
  "type": "amino-acid"
}