{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139749369",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 837,
          "referenceAllele": "D",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001733",
      "geneNCBI_id": 8621,
      "geneSymbol": "CDK13",
      "hgvs": [
        "NP_112557.2:p.Asp837Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA367280267",
          "hgvs": "NM_031267.3:c.2511T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA367280272",
          "hgvs": "NM_031267.3:c.2511T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS179088"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=961284[alleleid]",
        "alleleId": 961284,
        "preferredName": "NM_003718.5(CDK13):c.2511T>G (p.Asp837Glu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3801439[alleleid]",
        "alleleId": 3801439,
        "preferredName": "NM_003718.5(CDK13):c.2511T>A (p.Asp837Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/973023",
        "RCV": [
          "RCV001249357",
          "RCV003688926"
        ],
        "variationId": 973023
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3661760",
        "RCV": [
          "RCV005135619"
        ],
        "variationId": 3661760
      }
    ]
  },
  "type": "amino-acid"
}