{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916021457",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 127,
          "referenceAllele": "C",
          "start": 126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007225",
      "geneNCBI_id": 4359,
      "geneSymbol": "MPZ",
      "hgvs": [
        "NP_001302420.1:p.Cys127Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA204850",
          "hgvs": "NM_001315491.2:c.380G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343348890",
          "hgvs": "NM_001315491.2:c.379T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167014"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205215[alleleid]",
        "alleleId": 205215,
        "preferredName": "NM_000530.8(MPZ):c.380G>C (p.Cys127Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208765",
        "RCV": [
          "RCV000190787",
          "RCV001852535"
        ],
        "variationId": 208765
      }
    ]
  },
  "type": "amino-acid"
}