{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA202545",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2560,
          "referenceAllele": "A",
          "start": 2559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009069",
      "geneNCBI_id": 5339,
      "geneSymbol": "PLEC",
      "hgvs": [
        "NP_958782.1:p.Ala2560Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA202537",
          "hgvs": "NM_201380.4:c.7678G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580078728",
          "hgvs": "NM_201380.4:c.7677_7678delinsTA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS185510"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=193877[alleleid]",
        "alleleId": 193877,
        "preferredName": "NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2065729[alleleid]",
        "alleleId": 2065729,
        "preferredName": "NM_201384.3(PLEC):c.7266_7267delinsTA (p.Ala2423Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/196716",
        "RCV": [
          "RCV000177598",
          "RCV000712756",
          "RCV001086675",
          "RCV004537437"
        ],
        "variationId": 196716
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2019357",
        "RCV": [
          "RCV002871046"
        ],
        "variationId": 2019357
      }
    ]
  },
  "type": "amino-acid"
}