{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827113319",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 582,
          "referenceAllele": "V",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009122",
      "geneNCBI_id": 5395,
      "geneSymbol": "PMS2",
      "hgvs": [
        "NP_001308934.1:p.Val582Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA010907",
          "hgvs": "NM_001322005.2:c.1744G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624810"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=50148[alleleid]",
        "alleleId": 50148,
        "preferredName": "NM_000535.7(PMS2):c.2149G>A (p.Val717Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/41709",
        "RCV": [
          "RCV000034624",
          "RCV000115676",
          "RCV000199450",
          "RCV000411225",
          "RCV000417397",
          "RCV000515268",
          "RCV001081398",
          "RCV001798066",
          "RCV003492332"
        ],
        "variationId": 41709
      }
    ]
  },
  "type": "amino-acid"
}