{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827310619",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 71,
          "referenceAllele": "D",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007121",
      "geneNCBI_id": 54903,
      "geneSymbol": "MKS1",
      "hgvs": [
        "NP_001317326.1:p.Asp71Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346867",
          "hgvs": "NM_001330397.2:c.213C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA400327796",
          "hgvs": "NM_001330397.2:c.213C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS624596"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193638[alleleid]",
        "alleleId": 193638,
        "preferredName": "NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196477",
        "RCV": [
          "RCV000177294",
          "RCV000514445",
          "RCV000351197",
          "RCV000399365",
          "RCV001079449",
          "RCV004528943"
        ],
        "variationId": 196477
      }
    ]
  },
  "type": "amino-acid"
}