{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827885441",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 143,
          "referenceAllele": "V",
          "start": 142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NP_001341544.1:p.Val143Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA004491",
          "hgvs": "NM_001354615.2:c.428T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS622700"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50071[alleleid]",
        "alleleId": 50071,
        "preferredName": "NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41632",
        "RCV": [
          "RCV000034537",
          "RCV000075123",
          "RCV000121360",
          "RCV000144609",
          "RCV000129936",
          "RCV000437810",
          "RCV000420168",
          "RCV000662558",
          "RCV000755644",
          "RCV001081259",
          "RCV001353661",
          "RCV003149604"
        ],
        "variationId": 41632
      }
    ]
  },
  "type": "amino-acid"
}