{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827563666",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 718,
          "referenceAllele": "V",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NP_001337613.1:p.Val718Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4338932",
          "hgvs": "NM_001350684.1:c.2152G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624572"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=567215[alleleid]",
        "alleleId": 567215,
        "preferredName": "NM_194454.3(KRIT1):c.2152G>A (p.Val718Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/578862",
        "RCV": [
          "RCV000701994",
          "RCV004026575"
        ],
        "variationId": 578862
      }
    ]
  },
  "type": "amino-acid"
}