{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA992989",
  "communityStandardTitle": [
    "NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1323534[alleleid]",
        "alleleId": 1323534,
        "preferredName": "NM_001368809.2(AMPD2):c.970C>T (p.Arg324Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1332816",
        "RCV": [
          "RCV001806390",
          "RCV002542417"
        ],
        "variationId": 1332816
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-110170415-C-T",
        "id": "1-110170415-C-T",
        "variant": "1:110170415 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.110170415C>T?assembly=hg19",
        "id": "chr1:g.110170415C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.109627793C>T?assembly=hg38",
        "id": "chr1:g.109627793C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/776868175",
        "rs": 776868175
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-110170415-C-T?dataset=gnomad_r2_1",
        "id": "1-110170415-C-T",
        "variant": "1:110170415 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-109627793-C-T?dataset=gnomad_r4",
        "id": "1-109627793-C-T",
        "variant": "1:109627793 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 109627793,
          "referenceAllele": "C",
          "start": 109627792
        }
      ],
      "hgvs": [
        "NC_000001.11:g.109627793C>T",
        "CM000663.2:g.109627793C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 110170415,
          "referenceAllele": "C",
          "start": 110170414
        }
      ],
      "hgvs": [
        "NC_000001.10:g.110170415C>T",
        "CM000663.1:g.110170415C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 109971938,
          "referenceAllele": "C",
          "start": 109971937
        }
      ],
      "hgvs": [
        "NC_000001.9:g.109971938C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 12981,
          "referenceAllele": "C",
          "start": 12980
        }
      ],
      "hgvs": [
        "NG_034075.1:g.12981C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005732"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.8:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.4:p.Arg324Trp",
        "hgvsWellDefined": "ENSP00000256578.4:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.9:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.5:p.Arg324Trp",
        "hgvsWellDefined": "ENSP00000351573.5:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.7:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358855.3:p.Arg324Trp",
        "hgvsWellDefined": "ENSP00000358855.3:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000474459.6:n.1589C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000476688.3:c.652C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437025.2:p.Arg218Trp",
        "hgvsWellDefined": "ENSP00000437025.2:p.Arg218Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1693,
          "referenceAllele": "C",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000486282.7:n.1693C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1304,
          "referenceAllele": "C",
          "start": 1303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000524975.2:n.1304C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1486,
          "referenceAllele": "C",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000525415.2:n.1486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.6:n.1033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 825,
          "referenceAllele": "C",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000527846.7:n.825C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.7:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.2:p.Arg324Trp",
        "hgvsWellDefined": "ENSP00000436541.2:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.970C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.970C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg324Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg324Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531203.6:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431975.2:p.Arg260Trp",
        "hgvsWellDefined": "ENSP00000431975.2:p.Arg260Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1150,
          "referenceAllele": "C",
          "start": 1149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531734.6:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433739.2:p.Arg297Trp",
        "hgvsWellDefined": "ENSP00000433739.2:p.Arg297Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000652975.2:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499620.2:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000654851.1:n.812C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000655992.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499740.1:p.Arg260Trp",
        "hgvsWellDefined": "ENSP00000499740.1:p.Arg260Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000659122.2:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499621.2:p.Arg324Trp",
        "hgvsWellDefined": "ENSP00000499621.2:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000663749.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499739.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1190,
          "referenceAllele": "C",
          "start": 1189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000667949.2:c.370C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499465.2:p.Arg124Trp",
        "hgvsWellDefined": "ENSP00000499465.2:p.Arg124Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1163,
          "referenceAllele": "C",
          "start": 1162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000668421.1:c.*911C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499362.1:n.*911C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679379.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505528.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679593.1:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505999.1:p.Arg324Trp",
        "hgvsWellDefined": "ENSP00000505999.1:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679880.1:n.1490C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679892.1:c.*738C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504882.1:n.*738C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679981.1:c.*984C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506422.1:n.*984C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1176,
          "referenceAllele": "C",
          "start": 1175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680132.1:c.*834C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505950.1:n.*834C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680148.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505994.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680170.1:n.1602C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1695,
          "referenceAllele": "C",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680192.1:n.1695C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680519.1:n.1206C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680531.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506332.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680820.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505735.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680832.1:c.*984C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505774.1:n.*984C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680929.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504916.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1087,
          "referenceAllele": "C",
          "start": 1086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681108.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506701.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681121.1:c.*80C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506466.1:n.*80C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1078,
          "referenceAllele": "C",
          "start": 1077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681132.1:c.*736C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506195.1:n.*736C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681181.1:c.*722C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506038.1:n.*722C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681218.1:c.*1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505976.1:n.*1096C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681246.1:c.*626C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505534.1:n.*626C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681496.1:c.*1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505948.1:n.*1096C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1309,
          "referenceAllele": "C",
          "start": 1308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681834.1:n.1309C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1421,
          "referenceAllele": "C",
          "start": 1420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681862.1:c.*1096C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505537.1:n.*1096C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1492,
          "referenceAllele": "C",
          "start": 1491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.7:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.3:p.Arg378Trp",
        "hgvsWellDefined": "ENSP00000256578.3:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000342115.8:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345498.4:p.Arg297Trp",
        "hgvsWellDefined": "ENSP00000345498.4:p.Arg297Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 941,
          "referenceAllele": "C",
          "start": 940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.8:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.4:p.Arg303Trp",
        "hgvsWellDefined": "ENSP00000351573.4:p.Arg303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.6:c.1043C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000393688.7:c.775C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377292.3:p.Arg259Trp",
        "hgvsWellDefined": "ENSP00000377292.3:p.Arg259Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000524975.1:n.616C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1171,
          "referenceAllele": "C",
          "start": 1170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.5:n.1171C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528454.5:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437164.1:p.Arg260Trp",
        "hgvsWellDefined": "ENSP00000437164.1:p.Arg260Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.5:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.1:p.Arg378Trp",
        "hgvsWellDefined": "ENSP00000436541.1:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20,
          "referenceAllele": "C",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000529299.2:n.20C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.1:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg378Trp",
        "hgvsWellDefined": "NP_001244289.1:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442149",
      "coordinates": [
        {
          "allele": "T",
          "end": 981,
          "referenceAllele": "C",
          "start": 980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg260Trp",
        "hgvsWellDefined": "NP_001244290.1:p.Arg260Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928933",
      "coordinates": [
        {
          "allele": "T",
          "end": 1101,
          "referenceAllele": "C",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001308170.1:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295099.1:p.Arg303Trp",
        "hgvsWellDefined": "NP_001295099.1:p.Arg303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.7:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.3:p.Arg378Trp",
        "hgvsWellDefined": "NP_004028.3:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275756",
      "coordinates": [
        {
          "allele": "T",
          "end": 1345,
          "referenceAllele": "C",
          "start": 1344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.3:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg297Trp",
        "hgvsWellDefined": "NP_631895.1:p.Arg297Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 983,
          "referenceAllele": "C",
          "start": 982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_203404.1:c.775C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_981949.1:p.Arg259Trp",
        "hgvsWellDefined": "NP_981949.1:p.Arg259Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541247.1:c.1345C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539549.1:p.Arg449Trp",
        "hgvsWellDefined": "XP_011539549.1:p.Arg449Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541248.1:c.1345C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539550.1:p.Arg449Trp",
        "hgvsWellDefined": "XP_011539550.1:p.Arg449Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_946607.1:n.1368C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446431.1:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302199.1:p.Arg303Trp",
        "hgvsWellDefined": "XP_024302199.1:p.Arg303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446432.1:c.907C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302200.1:p.Arg303Trp",
        "hgvsWellDefined": "XP_024302200.1:p.Arg303Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1543,
          "referenceAllele": "C",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_002956282.1:n.1543C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.2:c.1132C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg378Trp",
        "hgvsWellDefined": "NP_001244289.1:p.Arg378Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828290422",
      "coordinates": [
        {
          "allele": "T",
          "end": 1674,
          "referenceAllele": "C",
          "start": 1673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001368809.2:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355738.1:p.Arg324Trp",
        "hgvsWellDefined": "NP_001355738.1:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.970C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.970C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg324Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg324Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084431",
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.9:c.970C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.4:p.Arg324Trp",
        "hgvsWellDefined": "NP_004028.4:p.Arg324Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442149",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.2:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg260Trp",
        "hgvsWellDefined": "NP_001244290.1:p.Arg260Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275756",
      "coordinates": [
        {
          "allele": "T",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.4:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg297Trp",
        "hgvsWellDefined": "NP_631895.1:p.Arg297Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729213"
    }
  ],
  "type": "nucleotide"
}