{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645483231",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 432,
          "referenceAllele": "A",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NP_002171.2:p.Ala432Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6153597",
          "hgvs": "NM_002180.3:c.1295C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244680[alleleid]",
        "alleleId": 244680,
        "preferredName": "NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/245837",
        "RCV": [
          "RCV000236000",
          "RCV000763763",
          "RCV002379045"
        ],
        "variationId": 245837
      }
    ]
  },
  "type": "amino-acid"
}