{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829466004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 221,
          "referenceAllele": "Q",
          "start": 220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NP_003485.1:p.Gln221His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10606797",
          "hgvs": "NM_003494.4:c.663G>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA347207711",
          "hgvs": "NM_003494.4:c.663G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169276"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=274752[alleleid]",
        "alleleId": 274752,
        "preferredName": "NM_001130987.2(DYSF):c.759G>C (p.Gln253His)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4633171[alleleid]",
        "alleleId": 4633171,
        "preferredName": "NM_001130987.2(DYSF):c.759G>T (p.Gln253His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/290515",
        "RCV": [
          "RCV000333472",
          "RCV000812750"
        ],
        "variationId": 290515
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4516196",
        "RCV": [
          "RCV006239691"
        ],
        "variationId": 4516196
      }
    ]
  },
  "type": "amino-acid"
}