{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110349",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 173,
          "referenceAllele": "S",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006937",
      "geneNCBI_id": 64087,
      "geneSymbol": "MCCC2",
      "hgvs": [
        "NP_071415.1:p.Ser173Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA312686",
          "hgvs": "NM_022132.5:c.518C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177752"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200096[alleleid]",
        "alleleId": 200096,
        "preferredName": "NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/203803",
        "RCV": [
          "RCV001378263"
        ],
        "variationId": 203803
      }
    ]
  },
  "type": "amino-acid"
}