{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA287392",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 102,
          "referenceAllele": "E",
          "start": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_000240.1:p.Glu102Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA009696",
          "hgvs": "NM_000249.4:c.306G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA009700",
          "hgvs": "NM_000249.4:c.306G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146796"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95624[alleleid]",
        "alleleId": 95624,
        "preferredName": "NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=95625[alleleid]",
        "alleleId": 95625,
        "preferredName": "NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90150",
        "RCV": [
          "RCV000075636",
          "RCV001048439",
          "RCV002444532",
          "RCV003451130"
        ],
        "variationId": 90150
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90151",
        "RCV": [
          "RCV000075637",
          "RCV000115480",
          "RCV000216647",
          "RCV000524291",
          "RCV000851292",
          "RCV001353746",
          "RCV002228180",
          "RCV003338406"
        ],
        "variationId": 90151
      }
    ]
  },
  "type": "amino-acid"
}