{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110456",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 514,
          "referenceAllele": "E",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006211",
      "geneNCBI_id": 3730,
      "geneSymbol": "ANOS1",
      "hgvs": [
        "NP_000207.2:p.Glu514Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254969",
          "hgvs": "NM_000216.4:c.1540G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146765"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25047[alleleid]",
        "alleleId": 25047,
        "preferredName": "NM_000216.4(ANOS1):c.1540G>A (p.Glu514Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10008",
        "RCV": [
          "RCV000010691"
        ],
        "variationId": 10008
      }
    ]
  },
  "type": "amino-acid"
}