{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645483236",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 508,
          "referenceAllele": "S",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005542",
      "geneNCBI_id": 3508,
      "geneSymbol": "IGHMBP2",
      "hgvs": [
        "NP_002171.2:p.Ser508Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6153673",
          "hgvs": "NM_002180.3:c.1523C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168052"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426719[alleleid]",
        "alleleId": 426719,
        "preferredName": "NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433162",
        "RCV": [
          "RCV000498809",
          "RCV000664228",
          "RCV000856971",
          "RCV002248737",
          "RCV001068853"
        ],
        "variationId": 433162
      }
    ]
  },
  "type": "amino-acid"
}