{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828062327",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318,
          "referenceAllele": "T",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001940",
      "geneNCBI_id": 1121,
      "geneSymbol": "CHM",
      "hgvs": [
        "NP_001349446.1:p.Thr318Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA413789278",
          "hgvs": "NM_001362517.1:c.952A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622609"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1872906[alleleid]",
        "alleleId": 1872906,
        "preferredName": "NM_000390.4(CHM):c.1396A>G (p.Thr466Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2143213",
        "RCV": [
          "RCV003076609"
        ],
        "variationId": 2143213
      }
    ]
  },
  "type": "amino-acid"
}