{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA234171",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 4087,
          "referenceAllele": "S",
          "start": 4086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "NP_003473.3:p.Ser4087Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA234170",
          "hgvs": "NM_003482.4:c.12261C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA384712407",
          "hgvs": "NM_003482.4:c.12261C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA384712415",
          "hgvs": "NM_003482.4:c.12259A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169264"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=177797[alleleid]",
        "alleleId": 177797,
        "preferredName": "NM_003482.4(KMT2D):c.12261C>G (p.Ser4087Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2741633[alleleid]",
        "alleleId": 2741633,
        "preferredName": "NM_003482.4(KMT2D):c.12259A>C (p.Ser4087Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3814775[alleleid]",
        "alleleId": 3814775,
        "preferredName": "NM_003482.4(KMT2D):c.12261C>A (p.Ser4087Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/167221",
        "RCV": [
          "RCV000153411"
        ],
        "variationId": 167221
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2576736",
        "RCV": [
          "RCV003323041"
        ],
        "variationId": 2576736
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3681033",
        "RCV": [
          "RCV005162900"
        ],
        "variationId": 3681033
      }
    ]
  },
  "type": "amino-acid"
}