{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110496",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 396,
          "referenceAllele": "S",
          "start": 395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006211",
      "geneNCBI_id": 3730,
      "geneSymbol": "ANOS1",
      "hgvs": [
        "NP_000207.2:p.Ser396Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA254972",
          "hgvs": "NM_000216.4:c.1187C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146765"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=25052[alleleid]",
        "alleleId": 25052,
        "preferredName": "NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/10013",
        "RCV": [
          "RCV000010696",
          "RCV002247315",
          "RCV003436922"
        ],
        "variationId": 10013
      }
    ]
  },
  "type": "amino-acid"
}