{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828759386",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 14,
          "referenceAllele": "V",
          "start": 13
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037261",
      "geneNCBI_id": 401124,
      "geneSymbol": "DTHD1",
      "hgvs": [
        "NP_001365364.1:p.Val14Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2885594",
          "hgvs": "NM_001378435.1:c.41T>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2739270044",
          "hgvs": "NM_001378435.1:c.41_42delinsAC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS736262"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1154765[alleleid]",
        "alleleId": 1154765,
        "preferredName": "NM_001170700.3(DTHD1):c.911T>A (p.Val304Asp)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3047139[alleleid]",
        "alleleId": 3047139,
        "preferredName": "NM_001170700.3(DTHD1):c.911_912delinsAC (p.Val304Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1166644",
        "RCV": [
          "RCV001515076"
        ],
        "variationId": 1166644
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2886980",
        "RCV": [
          "RCV003722162"
        ],
        "variationId": 2886980
      }
    ]
  },
  "type": "amino-acid"
}