{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826644966",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 165,
          "referenceAllele": "P",
          "start": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006971",
      "geneNCBI_id": 4191,
      "geneSymbol": "MDH2",
      "hgvs": [
        "NP_001269332.1:p.Pro165Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16044163",
          "hgvs": "NM_001282403.2:c.494C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS162375"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=260445[alleleid]",
        "alleleId": 260445,
        "preferredName": "NM_005918.4(MDH2):c.620C>T (p.Pro207Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/265770",
        "RCV": [
          "RCV000417059",
          "RCV000496994"
        ],
        "variationId": 265770
      }
    ]
  },
  "type": "amino-acid"
}