{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826456604",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "P",
          "end": 48,
          "referenceAllele": "Q",
          "start": 47
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001245200.1:p.Gln48Pro"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA005432",
          "hgvs": "NM_001258271.2:c.143A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160220"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95213[alleleid]",
        "alleleId": 95213,
        "preferredName": "NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/89739",
        "RCV": [
          "RCV000075213",
          "RCV001069994",
          "RCV003451028"
        ],
        "variationId": 89739
      }
    ]
  },
  "type": "amino-acid"
}