{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645483160",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 55,
          "referenceAllele": "Q",
          "start": 54
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NP_002171.2:p.Gln55His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6153203",
          "hgvs": "NM_002180.3:c.165G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA381642363",
          "hgvs": "NM_002180.3:c.165G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=415301[alleleid]",
        "alleleId": 415301,
        "preferredName": "NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/426960",
        "RCV": [
          "RCV000489846",
          "RCV001083586",
          "RCV001173342",
          "RCV002222528",
          "RCV002404282"
        ],
        "variationId": 426960
      }
    ]
  },
  "type": "amino-acid"
}