{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827612343",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 56,
          "referenceAllele": "R",
          "start": 55
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003622",
      "geneNCBI_id": 2218,
      "geneSymbol": "FKTN",
      "hgvs": [
        "NP_001338427.1:p.Arg56His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA285426",
          "hgvs": "NM_001351498.2:c.167G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625731"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99423[alleleid]",
        "alleleId": 99423,
        "preferredName": "NM_001079802.2(FKTN):c.167G>A (p.Arg56His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93518",
        "RCV": [
          "RCV000079432",
          "RCV000245908",
          "RCV000241990",
          "RCV001080549",
          "RCV000853033",
          "RCV001167247",
          "RCV001167248",
          "RCV004528283"
        ],
        "variationId": 93518
      }
    ]
  },
  "type": "amino-acid"
}