{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2388495818",
  "communityStandardTitle": [
    "NM_001347721.2(DYRK1A):c.905C= (p.Ser302=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1039571136",
        "rs": 1039571136
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 37490442,
          "referenceAllele": "C",
          "start": 37490441
        }
      ],
      "hgvs": [
        "NC_000021.9:g.37490442C=",
        "CM000683.2:g.37490442C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000069"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 38862744,
          "referenceAllele": "C",
          "start": 38862743
        }
      ],
      "hgvs": [
        "NC_000021.8:g.38862744C=",
        "CM000683.1:g.38862744C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000045"
    },
    {
      "chromosome": "21",
      "coordinates": [
        {
          "allele": "C",
          "end": 37784614,
          "referenceAllele": "C",
          "start": 37784613
        }
      ],
      "hgvs": [
        "NC_000021.7:g.37784614C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000021"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 127886,
          "referenceAllele": "C",
          "start": 127885
        }
      ],
      "hgvs": [
        "NG_009366.1:g.127886C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001574"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000338785.8:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342690.3:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1032,
          "referenceAllele": "C",
          "start": 1031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000398960.7:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381932.2:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1327,
          "referenceAllele": "C",
          "start": 1326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000642309.1:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495596.1:p.Ser273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766673"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1105,
          "referenceAllele": "C",
          "start": 1104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000643624.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493627.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767382"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000643808.1:n.735C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1074,
          "referenceAllele": "C",
          "start": 1073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000643854.1:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493653.1:p.Ser273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767509"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000644367.1:n.296C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767781"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1536,
          "referenceAllele": "C",
          "start": 1535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000644942.1:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494544.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768086"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000645424.1:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494897.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000645774.1:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494536.1:p.Ser318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 347,
          "referenceAllele": "C",
          "start": 346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000646224.1:n.347C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768762"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000646523.1:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495632.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768922"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000646548.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495908.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1837,
          "referenceAllele": "C",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000647188.2:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494572.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769280",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647188.2:c.905C="
          },
          "RefSeq": {
            "hgvs": "NM_001347721.2:c.905C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494572.1:p.Ser302="
          },
          "RefSeq": {
            "hgvs": "NP_001334650.1:p.Ser302="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1377,
          "referenceAllele": "C",
          "start": 1376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000647425.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496748.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000647504.1:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495571.1:p.Ser273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1161,
          "referenceAllele": "C",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000338785.7:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342690.3:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260725"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000339659.8:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340373.3:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260920"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000398956.2:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381929.2:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "ENST00000398960.6:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381932.2:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278489"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088361682",
      "coordinates": [
        {
          "allele": "C",
          "end": 1007,
          "referenceAllele": "C",
          "start": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.3:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026782"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1181,
          "referenceAllele": "C",
          "start": 1180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_101395.2:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "NP_567824.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040347"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_130436.2:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_569120.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040361"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1008,
          "referenceAllele": "C",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_130438.2:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "NP_569122.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040362"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1135,
          "referenceAllele": "C",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_005260931.3:c.845C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260988.1:p.Ser282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 345,
          "referenceAllele": "C",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_005260933.3:c.248C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260990.1:p.Ser83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1084,
          "referenceAllele": "C",
          "start": 1083
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723976.2:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724039.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075299"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723977.2:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724040.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075300"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1056,
          "referenceAllele": "C",
          "start": 1055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723978.2:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724041.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075301"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1239,
          "referenceAllele": "C",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723979.2:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724042.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075302"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529482.1:c.953C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527784.1:p.Ser318="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1109,
          "referenceAllele": "C",
          "start": 1108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529483.1:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527785.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529484.1:c.926C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527786.1:p.Ser309="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529485.1:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527787.1:p.Ser273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS096554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347721.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001334650.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517817"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1284,
          "referenceAllele": "C",
          "start": 1283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347722.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001334651.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517818"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1590,
          "referenceAllele": "C",
          "start": 1589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347723.1:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001334652.1:p.Ser273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517819"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088361682",
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.4:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524870"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 333,
          "referenceAllele": "C",
          "start": 332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_005260933.5:c.248C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260990.1:p.Ser83="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535261"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1079,
          "referenceAllele": "C",
          "start": 1078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723976.3:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724039.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540861"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723977.3:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724040.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2133,
          "referenceAllele": "C",
          "start": 2132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_006723978.3:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006724041.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540863"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3947,
          "referenceAllele": "C",
          "start": 3946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_011529483.2:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011527785.1:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS549520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_017028284.1:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883773.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1279,
          "referenceAllele": "C",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_017028286.2:c.845C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016883775.1:p.Ser282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1322,
          "referenceAllele": "C",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "XM_024452057.1:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024307825.1:p.Ser273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1837,
          "referenceAllele": "C",
          "start": 1836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347721.2:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001334650.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664426",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647188.2:c.905C="
          },
          "RefSeq": {
            "hgvs": "NM_001347721.2:c.905C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000494572.1:p.Ser302="
          },
          "RefSeq": {
            "hgvs": "NP_001334650.1:p.Ser302="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1094,
          "referenceAllele": "C",
          "start": 1093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347722.2:c.905C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001334651.1:p.Ser302="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001347723.2:c.818C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001334652.1:p.Ser273="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719059"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088361682",
      "coordinates": [
        {
          "allele": "C",
          "end": 1270,
          "referenceAllele": "C",
          "start": 1269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003091",
      "geneNCBI_id": 1859,
      "geneSymbol": "DYRK1A",
      "hgvs": [
        "NM_001396.5:c.932C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001387.2:p.Ser311="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727179"
    }
  ],
  "type": "nucleotide"
}