{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658825453",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 252,
          "referenceAllele": "F",
          "start": 251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000061",
      "geneNCBI_id": 215,
      "geneSymbol": "ABCD1",
      "hgvs": [
        "NP_000024.2:p.Phe252Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA337234614",
          "hgvs": "NM_000033.4:c.756C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA415099814",
          "hgvs": "NM_000033.4:c.754T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA415099824",
          "hgvs": "NM_000033.4:c.756C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146586"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=553405[alleleid]",
        "alleleId": 553405,
        "preferredName": "NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2993216[alleleid]",
        "alleleId": 2993216,
        "preferredName": "NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/562209",
        "RCV": [
          "RCV000681650"
        ],
        "variationId": 562209
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2839779",
        "RCV": [
          "RCV003625659"
        ],
        "variationId": 2839779
      }
    ]
  },
  "type": "amino-acid"
}