{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573220522",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 813,
          "referenceAllele": "A",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NP_002171.2:p.Ala813Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6153910",
          "hgvs": "NM_002180.3:c.2438C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1352098[alleleid]",
        "alleleId": 1352098,
        "preferredName": "NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1507639",
        "RCV": [
          "RCV002048122",
          "RCV003134345"
        ],
        "variationId": 1507639
      }
    ]
  },
  "type": "amino-acid"
}