{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA239665",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 621,
          "referenceAllele": "R",
          "start": 620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NP_078853.2:p.Arg621His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA239663",
          "hgvs": "NM_024577.4:c.1862G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178362"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=191093[alleleid]",
        "alleleId": 191093,
        "preferredName": "NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/193930",
        "RCV": [
          "RCV000236423",
          "RCV000724178",
          "RCV001157383",
          "RCV001085590",
          "RCV001157384",
          "RCV001173837",
          "RCV002408756",
          "RCV004535197"
        ],
        "variationId": 193930
      }
    ]
  },
  "type": "amino-acid"
}