{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108996",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 64,
          "referenceAllele": "M",
          "start": 63
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011311",
      "geneNCBI_id": 6736,
      "geneSymbol": "SRY",
      "hgvs": [
        "NP_003131.1:p.Met64Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254875",
          "hgvs": "NM_003140.3:c.192G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA414941586",
          "hgvs": "NM_003140.3:c.192G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA414941587",
          "hgvs": "NM_003140.3:c.192G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168956"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24786[alleleid]",
        "alleleId": 24786,
        "preferredName": "NM_003140.3(SRY):c.192G>A (p.Met64Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9747",
        "RCV": [
          "RCV000010401"
        ],
        "variationId": 9747
      }
    ]
  },
  "type": "amino-acid"
}