{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA137809",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 732,
          "referenceAllele": "L",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003036",
      "geneNCBI_id": 1824,
      "geneSymbol": "DSC2",
      "hgvs": [
        "NP_004940.1:p.Leu732Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022624",
          "hgvs": "NM_004949.5:c.2194T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170620"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=44669[alleleid]",
        "alleleId": 44669,
        "preferredName": "NM_024422.6(DSC2):c.2194T>G (p.Leu732Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36005",
        "RCV": [
          "RCV000029663",
          "RCV000039419",
          "RCV000157173",
          "RCV000148468",
          "RCV000233024",
          "RCV000776181",
          "RCV000617398",
          "RCV001080880",
          "RCV003944841"
        ],
        "variationId": 36005
      }
    ]
  },
  "type": "amino-acid"
}