{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA133990",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 293,
          "referenceAllele": "I",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003049",
      "geneNCBI_id": 1829,
      "geneSymbol": "DSG2",
      "hgvs": [
        "NP_001934.2:p.Ile293Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA022337",
          "hgvs": "NM_001943.5:c.877A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2739268639",
          "hgvs": "NM_001943.5:c.876_877delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167825"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53498[alleleid]",
        "alleleId": 53498,
        "preferredName": "NM_001943.5(DSG2):c.877A>G (p.Ile293Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3032424[alleleid]",
        "alleleId": 3032424,
        "preferredName": "NM_001943.5(DSG2):c.876_877inv (p.Ile293Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44331",
        "RCV": [
          "RCV000037319",
          "RCV000254391",
          "RCV000260352",
          "RCV000771063",
          "RCV001705672",
          "RCV003996326"
        ],
        "variationId": 44331
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2873709",
        "RCV": [
          "RCV003632325"
        ],
        "variationId": 2873709
      }
    ]
  },
  "type": "amino-acid"
}