{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826462098",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 381,
          "referenceAllele": "L",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001245203.1:p.Leu381His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007237",
          "hgvs": "NM_001258274.3:c.1142T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160223"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=38612[alleleid]",
        "alleleId": 38612,
        "preferredName": "NM_000249.4(MLH1):c.1865T>A (p.Leu622His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/29657",
        "RCV": [
          "RCV000022505",
          "RCV000075389",
          "RCV001804746",
          "RCV001851995",
          "RCV002408475"
        ],
        "variationId": 29657
      }
    ]
  },
  "type": "amino-acid"
}