{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830426021",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 623,
          "referenceAllele": "R",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001573",
      "geneNCBI_id": 889,
      "geneSymbol": "KRIT1",
      "hgvs": [
        "NP_919437.1:p.Arg623His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4339005",
          "hgvs": "NM_194455.1:c.1868G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184879"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=982673[alleleid]",
        "alleleId": 982673,
        "preferredName": "NM_194454.3(KRIT1):c.1868G>A (p.Arg623His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/995332",
        "RCV": [
          "RCV001289361",
          "RCV003633583",
          "RCV004035570"
        ],
        "variationId": 995332
      }
    ]
  },
  "type": "amino-acid"
}