{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA147258",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 393,
          "referenceAllele": "I",
          "start": 392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002995",
      "geneNCBI_id": 1798,
      "geneSymbol": "DPAGT1",
      "hgvs": [
        "NP_001373.2:p.Ile393Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA147257",
          "hgvs": "NM_001382.4:c.1177A>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3260661278",
          "hgvs": "NM_001382.4:c.1176_1177delinsTG"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167318"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=99631[alleleid]",
        "alleleId": 99631,
        "preferredName": "NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4898799[alleleid]",
        "alleleId": 4898799,
        "preferredName": "NM_001382.4(DPAGT1):c.1176_1177inv (p.Ile393Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/93728",
        "RCV": [
          "RCV000079665",
          "RCV000277995",
          "RCV000354528",
          "RCV001664275",
          "RCV001105861",
          "RCV001510136"
        ],
        "variationId": 93728
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4788819",
        "RCV": [
          "RCV006592223"
        ],
        "variationId": 4788819
      }
    ]
  },
  "type": "amino-acid"
}