{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827471217",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 229,
          "referenceAllele": "E",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015844",
      "geneNCBI_id": 89781,
      "geneSymbol": "HPS4",
      "hgvs": [
        "NP_001336834.1:p.Glu229Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA176318",
          "hgvs": "NM_001349905.1:c.686A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2697552595",
          "hgvs": "NM_001349905.1:c.686_687delinsGT"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS625007"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=176371[alleleid]",
        "alleleId": 176371,
        "preferredName": "NM_022081.6(HPS4):c.686A>G (p.Glu229Gly)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2855154[alleleid]",
        "alleleId": 2855154,
        "preferredName": "NM_022081.6(HPS4):c.686_687delinsGT (p.Glu229Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/163674",
        "RCV": [
          "RCV000150822",
          "RCV000260978",
          "RCV001519477",
          "RCV001701685"
        ],
        "variationId": 163674
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2698863",
        "RCV": [
          "RCV003544350"
        ],
        "variationId": 2698863
      }
    ]
  },
  "type": "amino-acid"
}