{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA126531",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Y",
          "end": 1131,
          "referenceAllele": "N",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NP_000129.3:p.Asn1131Tyr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA014044",
          "hgvs": "NM_000138.5:c.3391A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146688"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31486[alleleid]",
        "alleleId": 31486,
        "preferredName": "NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16447",
        "RCV": [
          "RCV000017910"
        ],
        "variationId": 16447
      }
    ]
  },
  "type": "amino-acid"
}