{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2741946251",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 50,
          "referenceAllele": "A",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015819",
      "geneNCBI_id": 27063,
      "geneSymbol": "ANKRD1",
      "hgvs": [
        "NP_055206.2:p.Ala50Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA377553633",
          "hgvs": "NM_014391.3:c.149C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173679"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3000070[alleleid]",
        "alleleId": 3000070,
        "preferredName": "NM_014391.3(ANKRD1):c.149C>A (p.Ala50Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2838968",
        "RCV": [
          "RCV003644072"
        ],
        "variationId": 2838968
      }
    ]
  },
  "type": "amino-acid"
}