{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA215097",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 379,
          "referenceAllele": "L",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006250",
      "geneNCBI_id": 3756,
      "geneSymbol": "KCNH1",
      "hgvs": [
        "NP_758872.1:p.Leu379Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA215095",
          "hgvs": "NM_172362.3:c.1135C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183251"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181519[alleleid]",
        "alleleId": 181519,
        "preferredName": "NM_172362.3(KCNH1):c.1135C>G (p.Leu379Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/183416",
        "RCV": [
          "RCV000185592"
        ],
        "variationId": 183416
      }
    ]
  },
  "type": "amino-acid"
}