{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829143232",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 72,
          "referenceAllele": "A",
          "start": 71
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014253",
      "geneNCBI_id": 10715,
      "geneSymbol": "CERS1",
      "hgvs": [
        "NP_001374368.1:p.Ala72Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA404868293",
          "hgvs": "NM_001387439.1:c.214G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733831"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3293250[alleleid]",
        "alleleId": 3293250,
        "preferredName": "NM_021267.5(CERS1):c.214G>A (p.Ala72Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3143151",
        "RCV": [
          "RCV004428520"
        ],
        "variationId": 3143151
      }
    ]
  },
  "type": "amino-acid"
}