{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA330688",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 41,
          "referenceAllele": "D",
          "start": 40
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_000240.1:p.Asp41His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA004758",
          "hgvs": "NM_000249.4:c.121G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146796"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95156[alleleid]",
        "alleleId": 95156,
        "preferredName": "NM_000249.4(MLH1):c.121G>C (p.Asp41His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89682",
        "RCV": [
          "RCV000075155",
          "RCV000255808",
          "RCV003593875"
        ],
        "variationId": 89682
      }
    ]
  },
  "type": "amino-acid"
}