{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139697175",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 293,
          "referenceAllele": "E",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026401",
      "geneNCBI_id": 153562,
      "geneSymbol": "MARVELD2",
      "hgvs": [
        "NP_001231663.1:p.Glu293Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA359924875",
          "hgvs": "NM_001244734.2:c.877G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159167"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=894619[alleleid]",
        "alleleId": 894619,
        "preferredName": "NM_001038603.3(MARVELD2):c.877G>C (p.Glu293Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/905495",
        "RCV": [
          "RCV001154043"
        ],
        "variationId": 905495
      }
    ]
  },
  "type": "amino-acid"
}