{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645475225",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 676,
          "referenceAllele": "S",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007325",
      "geneNCBI_id": 4436,
      "geneSymbol": "MSH2",
      "hgvs": [
        "NP_000242.1:p.Ser676Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346729109",
          "hgvs": "NM_000251.3:c.2027C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146798"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=427156[alleleid]",
        "alleleId": 427156,
        "preferredName": "NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433893",
        "RCV": [
          "RCV000501150",
          "RCV003449402"
        ],
        "variationId": 433893
      }
    ]
  },
  "type": "amino-acid"
}