{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA211495",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 547,
          "referenceAllele": "R",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NP_742054.1:p.Arg547His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA007095",
          "hgvs": "NM_172057.3:c.1640G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183143"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78319[alleleid]",
        "alleleId": 78319,
        "preferredName": "NM_000238.4(KCNH2):c.2660G>A (p.Arg887His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67423",
        "RCV": [
          "RCV000058148",
          "RCV000148534",
          "RCV000210414",
          "RCV000438782",
          "RCV001193784",
          "RCV001841714",
          "RCV002426617"
        ],
        "variationId": 67423
      }
    ]
  },
  "type": "amino-acid"
}