{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA299365",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 49,
          "referenceAllele": "D",
          "start": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Asp49Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA018373",
          "hgvs": "NM_000251.3:c.146A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=96150[alleleid]",
        "alleleId": 96150,
        "preferredName": "NM_000251.3(MSH2):c.146A>T (p.Asp49Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/90675",
        "RCV": [
          "RCV000160615",
          "RCV000221403",
          "RCV000662586",
          "RCV000684812",
          "RCV002267841",
          "RCV003997148"
        ],
        "variationId": 90675
      }
    ]
  },
  "type": "amino-acid"
}