{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741822581",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 2100,
          "referenceAllele": "S",
          "start": 2099
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NP_001009944.3:p.Ser2100Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA7831644",
          "hgvs": "NM_001009944.3:c.6299C>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3054214659",
          "hgvs": "NM_001009944.3:c.6298_6299delinsCT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS708163"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2804383[alleleid]",
        "alleleId": 2804383,
        "preferredName": "NM_001009944.3(PKD1):c.6299C>T (p.Ser2100Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3704658[alleleid]",
        "alleleId": 3704658,
        "preferredName": "NM_001009944.3(PKD1):c.6298_6299delinsCT (p.Ser2100Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2634860",
        "RCV": [
          "RCV003408776"
        ],
        "variationId": 2634860
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3579373",
        "RCV": [
          "RCV005020087"
        ],
        "variationId": 3579373
      }
    ]
  },
  "type": "amino-acid"
}