{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827913227",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 143,
          "referenceAllele": "C",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007154",
      "geneNCBI_id": 4311,
      "geneSymbol": "MME",
      "hgvs": [
        "NP_001341572.1:p.Cys143Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10586232",
          "hgvs": "NM_001354643.1:c.428G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622883"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=247611[alleleid]",
        "alleleId": 247611,
        "preferredName": "NM_007289.4(MME):c.428G>A (p.Cys143Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/253194",
        "RCV": [
          "RCV000239627"
        ],
        "variationId": 253194
      }
    ]
  },
  "type": "amino-acid"
}