{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139682444",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 891,
          "referenceAllele": "E",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NP_000341.2:p.Glu891Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA958188",
          "hgvs": "NM_000350.3:c.2673A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA341276011",
          "hgvs": "NM_000350.3:c.2673A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146895"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=930693[alleleid]",
        "alleleId": 930693,
        "preferredName": "NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/941963",
        "RCV": [
          "RCV001211845"
        ],
        "variationId": 941963
      }
    ]
  },
  "type": "amino-acid"
}