{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042939",
  "communityStandardTitle": [
    "NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=360172[alleleid]",
        "alleleId": 360172,
        "preferredName": "NM_130839.5(UBE3A):c.1480A>G (p.Asn494Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/372595",
        "RCV": [
          "RCV000413886"
        ],
        "variationId": 372595
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.25615841T>C?assembly=hg19",
        "id": "chr15:g.25615841T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.25370694T>C?assembly=hg38",
        "id": "chr15:g.25370694T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057517876",
        "rs": 1057517876
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 25370694,
          "referenceAllele": "T",
          "start": 25370693
        }
      ],
      "hgvs": [
        "NC_000015.10:g.25370694T>C",
        "CM000677.2:g.25370694T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 25615841,
          "referenceAllele": "T",
          "start": 25615840
        }
      ],
      "hgvs": [
        "NC_000015.9:g.25615841T>C",
        "CM000677.1:g.25615841T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 23166934,
          "referenceAllele": "T",
          "start": 23166933
        }
      ],
      "hgvs": [
        "NC_000015.8:g.23166934T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 73288,
          "referenceAllele": "A",
          "start": 73287
        }
      ],
      "hgvs": [
        "NG_009268.1:g.73288A>G",
        "LRG_15:g.73288A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001532"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2391,
          "referenceAllele": "A",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000438097.6:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411258.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000411258.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2023,
          "referenceAllele": "A",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000625778.3:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487217.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000487217.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762466"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1977,
          "referenceAllele": "A",
          "start": 1976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000635914.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490563.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000490563.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2177,
          "referenceAllele": "A",
          "start": 2176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000637886.1:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490258.1:p.Asn494Asp",
        "hgvsWellDefined": "ENSP00000490258.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2194,
          "referenceAllele": "A",
          "start": 2193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000638011.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490111.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000490111.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2583,
          "referenceAllele": "A",
          "start": 2582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000638155.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490557.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000490557.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2180,
          "referenceAllele": "A",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000648336.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497572.2:p.Asn494Asp",
        "hgvsWellDefined": "ENSP00000497572.2:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769919",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648336.2:c.1480A>G"
          },
          "RefSeq": {
            "hgvs": "NM_130839.5:c.1480A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497572.2:p.Asn494Asp"
          },
          "RefSeq": {
            "hgvs": "NP_570854.1:p.Asn494Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "A",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000649550.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497549.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000497549.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770602"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2245,
          "referenceAllele": "A",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000650110.1:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497594.1:p.Asn497Asp",
        "hgvsWellDefined": "ENSP00000497594.1:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2155,
          "referenceAllele": "A",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000675000.1:n.2155A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1459,
          "referenceAllele": "A",
          "start": 1458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000675177.1:c.1303A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502703.1:p.Asn435Asp",
        "hgvsWellDefined": "ENSP00000502703.1:p.Asn435Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4176,
          "referenceAllele": "A",
          "start": 4175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000675593.1:n.4176A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "A",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000232165.7:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000232165.5:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000232165.5:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1734,
          "referenceAllele": "A",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000397954.6:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381045.2:p.Asn497Asp",
        "hgvsWellDefined": "ENSP00000381045.2:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278058"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "referenceAllele": "A",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000428984.6:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000401265.2:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000401265.2:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290453"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1519,
          "referenceAllele": "A",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000438097.5:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411258.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000411258.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2006,
          "referenceAllele": "A",
          "start": 2005
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000566215.5:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457771.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000457771.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2193,
          "referenceAllele": "A",
          "start": 2192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000614096.4:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481796.1:p.Asn494Asp",
        "hgvsWellDefined": "ENSP00000481796.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402027"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2023,
          "referenceAllele": "A",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000625778.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000487217.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000487217.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "A",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "ENST00000630424.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486349.1:p.Asn474Asp",
        "hgvsWellDefined": "ENSP00000486349.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407367"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953202",
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "referenceAllele": "A",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_000462.3:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000453.2:p.Asn497Asp",
        "hgvsWellDefined": "NP_000453.2:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006524"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469291",
      "coordinates": [
        {
          "allele": "G",
          "end": 1464,
          "referenceAllele": "A",
          "start": 1463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130838.1:c.1420A>G",
        "LRG_15t1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570853.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_570853.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040432"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830185129",
      "coordinates": [
        {
          "allele": "G",
          "end": 2184,
          "referenceAllele": "A",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130839.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570854.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_570854.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040433"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2508,
          "referenceAllele": "A",
          "start": 2507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268267.3:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268324.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_005268324.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2395,
          "referenceAllele": "A",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268268.3:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268325.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_005268325.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2335,
          "referenceAllele": "A",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268269.3:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268326.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_005268326.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2270,
          "referenceAllele": "A",
          "start": 2269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268270.3:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268327.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_005268327.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2015,
          "referenceAllele": "A",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_005268271.3:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268328.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_005268328.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1829,
          "referenceAllele": "A",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720673.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720736.1:p.Asn494Asp",
        "hgvsWellDefined": "XP_006720736.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1919,
          "referenceAllele": "A",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720674.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720737.1:p.Asn494Asp",
        "hgvsWellDefined": "XP_006720737.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2460,
          "referenceAllele": "A",
          "start": 2459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720675.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720738.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_006720738.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2079,
          "referenceAllele": "A",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_006720676.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720739.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_006720739.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2397,
          "referenceAllele": "A",
          "start": 2396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521994.1:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520296.1:p.Asn497Asp",
        "hgvsWellDefined": "XP_011520296.1:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2114,
          "referenceAllele": "A",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521995.1:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520297.1:p.Asn497Asp",
        "hgvsWellDefined": "XP_011520297.1:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2345,
          "referenceAllele": "A",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521996.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520298.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_011520298.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915953202",
      "coordinates": [
        {
          "allele": "G",
          "end": 2277,
          "referenceAllele": "A",
          "start": 2276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_000462.5:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000453.2:p.Asn497Asp",
        "hgvsWellDefined": "NP_000453.2:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510796"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827862867",
      "coordinates": [
        {
          "allele": "G",
          "end": 1821,
          "referenceAllele": "A",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354505.1:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341434.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_001341434.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522471"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827863444",
      "coordinates": [
        {
          "allele": "G",
          "end": 2348,
          "referenceAllele": "A",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354506.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341435.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341435.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522472"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827864019",
      "coordinates": [
        {
          "allele": "G",
          "end": 2444,
          "referenceAllele": "A",
          "start": 2443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354507.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341436.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341436.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827864595",
      "coordinates": [
        {
          "allele": "G",
          "end": 2408,
          "referenceAllele": "A",
          "start": 2407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354508.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341437.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341437.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522474"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827865171",
      "coordinates": [
        {
          "allele": "G",
          "end": 2521,
          "referenceAllele": "A",
          "start": 2520
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354509.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341438.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341438.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522475"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827865747",
      "coordinates": [
        {
          "allele": "G",
          "end": 2358,
          "referenceAllele": "A",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354511.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341440.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341440.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522476"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827866323",
      "coordinates": [
        {
          "allele": "G",
          "end": 2374,
          "referenceAllele": "A",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354512.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341441.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341441.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827866900",
      "coordinates": [
        {
          "allele": "G",
          "end": 2378,
          "referenceAllele": "A",
          "start": 2377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354513.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341442.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341442.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827868060",
      "coordinates": [
        {
          "allele": "G",
          "end": 2325,
          "referenceAllele": "A",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354523.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341452.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341452.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827868760",
      "coordinates": [
        {
          "allele": "G",
          "end": 2082,
          "referenceAllele": "A",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354526.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341455.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341455.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827869874",
      "coordinates": [
        {
          "allele": "G",
          "end": 2248,
          "referenceAllele": "A",
          "start": 2247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354538.1:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341467.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_001341467.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827870450",
      "coordinates": [
        {
          "allele": "G",
          "end": 2283,
          "referenceAllele": "A",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354539.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341468.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341468.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827871025",
      "coordinates": [
        {
          "allele": "G",
          "end": 2638,
          "referenceAllele": "A",
          "start": 2637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354540.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341469.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341469.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827871602",
      "coordinates": [
        {
          "allele": "G",
          "end": 2473,
          "referenceAllele": "A",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354541.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341470.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341470.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827872178",
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "A",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354542.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341471.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341471.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827872754",
      "coordinates": [
        {
          "allele": "G",
          "end": 2653,
          "referenceAllele": "A",
          "start": 2652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354543.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341472.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341472.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827873330",
      "coordinates": [
        {
          "allele": "G",
          "end": 2439,
          "referenceAllele": "A",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354544.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341473.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341473.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522507"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827873909",
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354545.1:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341474.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_001341474.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522508"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827874402",
      "coordinates": [
        {
          "allele": "G",
          "end": 1986,
          "referenceAllele": "A",
          "start": 1985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354546.1:c.1303A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341475.1:p.Asn435Asp",
        "hgvsWellDefined": "NP_001341475.1:p.Asn435Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522509"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827874977",
      "coordinates": [
        {
          "allele": "G",
          "end": 2408,
          "referenceAllele": "A",
          "start": 2407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354547.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341476.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341476.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522510"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827875518",
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "A",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354548.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341477.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341477.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522511"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827876057",
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "A",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354549.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341478.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341478.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522512"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1093,
          "endIntronDirection": "+",
          "endIntronOffset": 4771,
          "referenceAllele": "A",
          "start": 1093,
          "startIntronDirection": "+",
          "startIntronOffset": 4770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354550.1:c.361+4771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341479.1:n.361+4771A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522513"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 909,
          "endIntronDirection": "+",
          "endIntronOffset": 4771,
          "referenceAllele": "A",
          "start": 909,
          "startIntronDirection": "+",
          "startIntronOffset": 4770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354551.1:c.301+4771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341480.1:n.301+4771A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522514"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469291",
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "A",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130838.3:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570853.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_570853.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526461"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830185129",
      "coordinates": [
        {
          "allele": "G",
          "end": 2212,
          "referenceAllele": "A",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130839.4:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570854.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_570854.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 18392,
          "endIntronDirection": "-",
          "endIntronOffset": 20901,
          "referenceAllele": "T",
          "start": 18392,
          "startIntronDirection": "-",
          "startIntronOffset": 20902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN037462",
      "geneNCBI_id": 104472715,
      "geneSymbol": "SNHG14",
      "hgvs": [
        "NR_146177.1:n.18393-20902T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "A",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NR_148916.1:n.2028A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531368"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2114,
          "referenceAllele": "A",
          "start": 2113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_011521995.3:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520297.1:p.Asn497Asp",
        "hgvsWellDefined": "XP_011520297.1:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546419"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2670,
          "referenceAllele": "A",
          "start": 2669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022547.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878036.1:p.Asn494Asp",
        "hgvsWellDefined": "XP_016878036.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573500"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2665,
          "referenceAllele": "A",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022548.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878037.1:p.Asn494Asp",
        "hgvsWellDefined": "XP_016878037.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573501"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3141,
          "referenceAllele": "A",
          "start": 3140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022550.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878039.1:p.Asn494Asp",
        "hgvsWellDefined": "XP_016878039.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573502"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2249,
          "referenceAllele": "A",
          "start": 2248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_017022556.2:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878045.1:p.Asn497Asp",
        "hgvsWellDefined": "XP_016878045.1:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573503"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1837,
          "referenceAllele": "A",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_024450043.1:c.1489A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305811.1:p.Asn497Asp",
        "hgvsWellDefined": "XP_024305811.1:p.Asn497Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583585"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4174,
          "referenceAllele": "A",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "XM_024450044.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305812.1:p.Asn474Asp",
        "hgvsWellDefined": "XP_024305812.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583586"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827863444",
      "coordinates": [
        {
          "allele": "G",
          "end": 2316,
          "referenceAllele": "A",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354506.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341435.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341435.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827864019",
      "coordinates": [
        {
          "allele": "G",
          "end": 2412,
          "referenceAllele": "A",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354507.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341436.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341436.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827864595",
      "coordinates": [
        {
          "allele": "G",
          "end": 2376,
          "referenceAllele": "A",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354508.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341437.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341437.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690207"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827865171",
      "coordinates": [
        {
          "allele": "G",
          "end": 2489,
          "referenceAllele": "A",
          "start": 2488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354509.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341438.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341438.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690208"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827865747",
      "coordinates": [
        {
          "allele": "G",
          "end": 2326,
          "referenceAllele": "A",
          "start": 2325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354511.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341440.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341440.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690209"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827866323",
      "coordinates": [
        {
          "allele": "G",
          "end": 2342,
          "referenceAllele": "A",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354512.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341441.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341441.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827866900",
      "coordinates": [
        {
          "allele": "G",
          "end": 2346,
          "referenceAllele": "A",
          "start": 2345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354513.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341442.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341442.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690211"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827868060",
      "coordinates": [
        {
          "allele": "G",
          "end": 2293,
          "referenceAllele": "A",
          "start": 2292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354523.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341452.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341452.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827869874",
      "coordinates": [
        {
          "allele": "G",
          "end": 2216,
          "referenceAllele": "A",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354538.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341467.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_001341467.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690213"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827870450",
      "coordinates": [
        {
          "allele": "G",
          "end": 2251,
          "referenceAllele": "A",
          "start": 2250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354539.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341468.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341468.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827871025",
      "coordinates": [
        {
          "allele": "G",
          "end": 2606,
          "referenceAllele": "A",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354540.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341469.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341469.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690215"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827871602",
      "coordinates": [
        {
          "allele": "G",
          "end": 2441,
          "referenceAllele": "A",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354541.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341470.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341470.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690216"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827872178",
      "coordinates": [
        {
          "allele": "G",
          "end": 2060,
          "referenceAllele": "A",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354542.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341471.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341471.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690217"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827872754",
      "coordinates": [
        {
          "allele": "G",
          "end": 2621,
          "referenceAllele": "A",
          "start": 2620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354543.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341472.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341472.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827873330",
      "coordinates": [
        {
          "allele": "G",
          "end": 2407,
          "referenceAllele": "A",
          "start": 2406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354544.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341473.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341473.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827873909",
      "coordinates": [
        {
          "allele": "G",
          "end": 2180,
          "referenceAllele": "A",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354545.2:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341474.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_001341474.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690220"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827874402",
      "coordinates": [
        {
          "allele": "G",
          "end": 1954,
          "referenceAllele": "A",
          "start": 1953
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354546.2:c.1303A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341475.1:p.Asn435Asp",
        "hgvsWellDefined": "NP_001341475.1:p.Asn435Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690221"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827874977",
      "coordinates": [
        {
          "allele": "G",
          "end": 2376,
          "referenceAllele": "A",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354547.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341476.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341476.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690222"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827875518",
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "A",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354548.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341477.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341477.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690223"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827876057",
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "A",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354549.2:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341478.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001341478.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "endIntronDirection": "+",
          "endIntronOffset": 4771,
          "referenceAllele": "A",
          "start": 1061,
          "startIntronDirection": "+",
          "startIntronOffset": 4770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354550.2:c.361+4771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341479.1:n.361+4771A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690225"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 877,
          "endIntronDirection": "+",
          "endIntronOffset": 4771,
          "referenceAllele": "A",
          "start": 877,
          "startIntronDirection": "+",
          "startIntronOffset": 4770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001354551.2:c.301+4771A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341480.1:n.301+4771A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828520421",
      "coordinates": [
        {
          "allele": "G",
          "end": 4201,
          "referenceAllele": "A",
          "start": 4200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_001374461.1:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361390.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_001361390.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693288"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469291",
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "A",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130838.4:c.1420A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570853.1:p.Asn474Asp",
        "hgvsWellDefined": "NP_570853.1:p.Asn474Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830185129",
      "coordinates": [
        {
          "allele": "G",
          "end": 2180,
          "referenceAllele": "A",
          "start": 2179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NM_130839.5:c.1480A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_570854.1:p.Asn494Asp",
        "hgvsWellDefined": "NP_570854.1:p.Asn494Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699616",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000648336.2:c.1480A>G"
          },
          "RefSeq": {
            "hgvs": "NM_130839.5:c.1480A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000497572.2:p.Asn494Asp"
          },
          "RefSeq": {
            "hgvs": "NP_570854.1:p.Asn494Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1996,
          "referenceAllele": "A",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012496",
      "geneNCBI_id": 7337,
      "geneSymbol": "UBE3A",
      "hgvs": [
        "NR_148916.2:n.1996A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704886"
    }
  ],
  "type": "nucleotide"
}