{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA329607",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 306,
          "referenceAllele": "G",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006251",
      "geneNCBI_id": 3757,
      "geneSymbol": "KCNH2",
      "hgvs": [
        "NP_000229.1:p.Gly306Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA008981",
          "hgvs": "NM_000238.4:c.916G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA072256",
          "hgvs": "NM_000238.4:c.916G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146786"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=78439[alleleid]",
        "alleleId": 78439,
        "preferredName": "NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2104697[alleleid]",
        "alleleId": 2104697,
        "preferredName": "NM_000238.4(KCNH2):c.916G>A (p.Gly306Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/67543",
        "RCV": [
          "RCV000058272",
          "RCV000157261",
          "RCV000198797"
        ],
        "variationId": 67543
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2051989",
        "RCV": [
          "RCV002932385"
        ],
        "variationId": 2051989
      }
    ]
  },
  "type": "amino-acid"
}