{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA346260",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1265,
          "referenceAllele": "D",
          "start": 1264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002210",
      "geneNCBI_id": 1290,
      "geneSymbol": "COL5A2",
      "hgvs": [
        "NP_000384.2:p.Asp1265Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA346259",
          "hgvs": "NM_000393.5:c.3794A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146936"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178495[alleleid]",
        "alleleId": 178495,
        "preferredName": "NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180305",
        "RCV": [
          "RCV000157152",
          "RCV000356709",
          "RCV001569254",
          "RCV001139304",
          "RCV002277314",
          "RCV002229381",
          "RCV002313005"
        ],
        "variationId": 180305
      }
    ]
  },
  "type": "amino-acid"
}