{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA215103",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NP_002229.1:p.Gly348Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215102",
          "hgvs": "NM_002238.4:c.1042G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA344873885",
          "hgvs": "NM_002238.4:c.1042G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168108"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181520[alleleid]",
        "alleleId": 181520,
        "preferredName": "NM_172362.3(KCNH1):c.1123G>A (p.Gly375Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2477591[alleleid]",
        "alleleId": 2477591,
        "preferredName": "NM_172362.3(KCNH1):c.1123G>C (p.Gly375Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183415",
        "RCV": [
          "RCV000190319"
        ],
        "variationId": 183415
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2499611",
        "RCV": [
          "RCV003223540"
        ],
        "variationId": 2499611
      }
    ]
  },
  "type": "amino-acid"
}