{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499294853",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 55,
          "referenceAllele": "D",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001529",
      "geneNCBI_id": 859,
      "geneSymbol": "CAV3",
      "hgvs": [
        "NP_203123.1:p.Asp55Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA351663210",
          "hgvs": "NM_033337.3:c.165C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA351663211",
          "hgvs": "NM_033337.3:c.165C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180205"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=989791[alleleid]",
        "alleleId": 989791,
        "preferredName": "NM_033337.3(CAV3):c.165C>G (p.Asp55Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1025501[alleleid]",
        "alleleId": 1025501,
        "preferredName": "NM_033337.3(CAV3):c.165C>A (p.Asp55Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1009203",
        "RCV": [
          "RCV001306659"
        ],
        "variationId": 1009203
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1037574",
        "RCV": [
          "RCV001340756",
          "RCV001796985"
        ],
        "variationId": 1037574
      }
    ]
  },
  "type": "amino-acid"
}