{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827563218",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 338,
          "referenceAllele": "R",
          "start": 337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NP_001337612.1:p.Arg338Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4339230",
          "hgvs": "NM_001350683.1:c.1012C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625009"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1346751[alleleid]",
        "alleleId": 1346751,
        "preferredName": "NM_194454.3(KRIT1):c.1012C>T (p.Arg338Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1467124",
        "RCV": [
          "RCV001970327",
          "RCV003170238"
        ],
        "variationId": 1467124
      }
    ]
  },
  "type": "amino-acid"
}