{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658800473",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 296,
          "referenceAllele": "Y",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NP_000024.2:p.Tyr296Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA415100336",
          "hgvs": "NM_000033.4:c.887A>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2499226448",
          "hgvs": "NM_000033.4:c.886_887delinsAG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488306[alleleid]",
        "alleleId": 488306,
        "preferredName": "NM_000033.4(ABCD1):c.887A>C (p.Tyr296Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1286832[alleleid]",
        "alleleId": 1286832,
        "preferredName": "NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496882",
        "RCV": [
          "RCV000592687"
        ],
        "variationId": 496882
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1297042",
        "RCV": [
          "RCV001724778"
        ],
        "variationId": 1297042
      }
    ]
  },
  "type": "amino-acid"
}