{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139676998",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 188,
          "referenceAllele": "C",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000464",
      "geneNCBI_id": 268,
      "geneSymbol": "AMH",
      "hgvs": [
        "NP_000470.3:p.Cys188Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA403240249",
          "hgvs": "NM_000479.5:c.563G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS709783"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=975671[alleleid]",
        "alleleId": 975671,
        "preferredName": "NM_000479.5(AMH):c.563G>A (p.Cys188Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/987678",
        "RCV": [
          "RCV001268948"
        ],
        "variationId": 987678
      }
    ]
  },
  "type": "amino-acid"
}