{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645407182",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 233,
          "referenceAllele": "S",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NP_000521.2:p.Ser233Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16043363",
          "hgvs": "NM_000530.7:c.699T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343344146",
          "hgvs": "NM_000530.7:c.699T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343344180",
          "hgvs": "NM_000530.7:c.697A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147065"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360806[alleleid]",
        "alleleId": 360806,
        "preferredName": "NM_000530.8(MPZ):c.699T>G (p.Ser233Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/374017",
        "RCV": [
          "RCV000414872",
          "RCV000415393",
          "RCV001196260"
        ],
        "variationId": 374017
      }
    ]
  },
  "type": "amino-acid"
}