{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828149282",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 454,
          "referenceAllele": "S",
          "start": 453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007473",
      "geneNCBI_id": 4552,
      "geneSymbol": "MTRR",
      "hgvs": [
        "NP_001351371.1:p.Ser454Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254075",
          "hgvs": "NM_001364442.2:c.1361C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS660149"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22072[alleleid]",
        "alleleId": 22072,
        "preferredName": "NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7033",
        "RCV": [
          "RCV000007449",
          "RCV000757493",
          "RCV002512874",
          "RCV003460434"
        ],
        "variationId": 7033
      }
    ]
  },
  "type": "amino-acid"
}