{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828125891",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 489,
          "referenceAllele": "L",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006936",
      "geneNCBI_id": 56922,
      "geneSymbol": "MCCC1",
      "hgvs": [
        "NP_001350809.1:p.Leu489Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2718647",
          "hgvs": "NM_001363880.1:c.1465C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS657483"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=406159[alleleid]",
        "alleleId": 406159,
        "preferredName": "NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/424237",
        "RCV": [
          "RCV000482746",
          "RCV000765716",
          "RCV002525964"
        ],
        "variationId": 424237
      }
    ]
  },
  "type": "amino-acid"
}