{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA117814",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 370,
          "referenceAllele": "V",
          "start": 369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002895",
      "geneNCBI_id": 10913,
      "geneSymbol": "EDAR",
      "hgvs": [
        "NP_071731.1:p.Val370Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117813",
          "hgvs": "NM_022336.4:c.1109T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS177796"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20897[alleleid]",
        "alleleId": 20897,
        "preferredName": "NM_022336.4(EDAR):c.1109T>C (p.Val370Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5858",
        "RCV": [
          "RCV000006216",
          "RCV000174399",
          "RCV000382959",
          "RCV001133945",
          "RCV001261884",
          "RCV001659685",
          "RCV001723544",
          "RCV001523395",
          "RCV001659684"
        ],
        "variationId": 5858
      }
    ]
  },
  "type": "amino-acid"
}