{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825754765",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 1189,
          "referenceAllele": "M",
          "start": 1188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_001124451.1:p.Met1189Ile"
      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001130979.2:c.3567G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347220786",
          "hgvs": "NM_001130979.2:c.3567G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347220787",
          "hgvs": "NM_001130979.2:c.3567G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152620"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=589195[alleleid]",
        "alleleId": 589195,
        "preferredName": "NM_001130987.2(DYSF):c.3528G>A (p.Met1176Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4953507[alleleid]",
        "alleleId": 4953507,
        "preferredName": "NM_001130987.2(DYSF):c.3528G>C (p.Met1176Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/598134",
        "RCV": [
          "RCV000734455",
          "RCV000795781",
          "RCV001830640"
        ],
        "variationId": 598134
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4840895",
        "RCV": [
          "RCV006672115"
        ],
        "variationId": 4840895
      }
    ]
  },
  "type": "amino-acid"
}