{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA91408921",
  "communityStandardTitle": [
    "NM_001354761.2(ADD1):c.1943C>T (p.Ser648Phe)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.2916762C>T?assembly=hg19",
        "id": "chr4:g.2916762C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.2915035C>T?assembly=hg38",
        "id": "chr4:g.2915035C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4963",
        "rs": 4963
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 2915035,
          "referenceAllele": "C",
          "start": 2915034
        }
      ],
      "hgvs": [
        "NC_000004.12:g.2915035C>T",
        "CM000666.2:g.2915035C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 2916762,
          "referenceAllele": "C",
          "start": 2916761
        }
      ],
      "hgvs": [
        "NC_000004.11:g.2916762C>T",
        "CM000666.1:g.2916762C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 2886560,
          "referenceAllele": "C",
          "start": 2886559
        }
      ],
      "hgvs": [
        "NC_000004.10:g.2886560C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 76179,
          "referenceAllele": "C",
          "start": 76178
        }
      ],
      "hgvs": [
        "NG_012037.1:g.76179C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002123"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000683351.1:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508142.1:p.Ser648Phe",
        "hgvsWellDefined": "ENSP00000508142.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828331",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000683351.1:c.1943C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001354761.2:c.1943C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000508142.1:p.Ser648Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001341690.1:p.Ser648Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2332,
          "referenceAllele": "C",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000651918.1:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498269.1:p.Ser586Phe",
        "hgvsWellDefined": "ENSP00000498269.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000264758.11:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264758.6:p.Ser617Phe",
        "hgvsWellDefined": "ENSP00000264758.6:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251584"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000355842.7:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000348100.3:p.Ser617Phe",
        "hgvsWellDefined": "ENSP00000348100.3:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000398123.6:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381191.2:p.Ser617Phe",
        "hgvsWellDefined": "ENSP00000381191.2:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000398125.5:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381193.1:p.Ser617Phe",
        "hgvsWellDefined": "ENSP00000381193.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000398129.5:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381197.1:p.Ser586Phe",
        "hgvsWellDefined": "ENSP00000381197.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1738,
          "referenceAllele": "C",
          "start": 1737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000446856.5:c.*412C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399828.2:n.*412C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1908,
          "referenceAllele": "C",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000503455.6:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423024.2:p.Ser617Phe",
        "hgvsWellDefined": "ENSP00000423024.2:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS335768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1829,
          "referenceAllele": "C",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000513328.6:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421907.2:p.Ser586Phe",
        "hgvsWellDefined": "ENSP00000421907.2:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000513762.2:n.1537C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS343423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000514940.5:c.967C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 105,
          "endIntronDirection": "+",
          "endIntronOffset": 6431,
          "referenceAllele": "C",
          "start": 105,
          "startIntronDirection": "+",
          "startIntronOffset": 6430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000536424.2:c.105+6431C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438069.1:n.105+6431C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 331,
          "referenceAllele": "C",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000539149.1:n.331C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 883,
          "referenceAllele": "C",
          "start": 882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000541051.5:n.883C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS362736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94,
          "referenceAllele": "C",
          "start": 93
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "ENST00000541843.2:c.94C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363138"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069872243",
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "C",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001119.4:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001110.2:p.Ser586Phe",
        "hgvsWellDefined": "NP_001110.2:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001286645.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273574.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_001273574.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_014189.3:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054908.2:p.Ser617Phe",
        "hgvsWellDefined": "NP_054908.2:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "C",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_014190.3:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054909.2:p.Ser586Phe",
        "hgvsWellDefined": "NP_054909.2:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_176801.2:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_789771.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_789771.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "referenceAllele": "C",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_005247933.1:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247990.1:p.Ser648Phe",
        "hgvsWellDefined": "XP_005247990.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_005247934.1:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247991.1:p.Ser648Phe",
        "hgvsWellDefined": "XP_005247991.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058248"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_005247935.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247992.1:p.Ser617Phe",
        "hgvsWellDefined": "XP_005247992.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2261,
          "referenceAllele": "C",
          "start": 2260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_005247936.1:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247993.1:p.Ser648Phe",
        "hgvsWellDefined": "XP_005247993.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058250"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2168,
          "referenceAllele": "C",
          "start": 2167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_005247937.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247994.1:p.Ser617Phe",
        "hgvsWellDefined": "XP_005247994.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS058251"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354754.1:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341683.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341683.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354755.1:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341684.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341684.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354756.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341685.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_001341685.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1960,
          "referenceAllele": "C",
          "start": 1959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354757.1:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341686.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341686.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354758.1:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341687.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341687.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2038,
          "referenceAllele": "C",
          "start": 2037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354759.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341688.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_001341688.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354761.1:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341690.1:p.Ser648Phe",
        "hgvsWellDefined": "NP_001341690.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2131,
          "referenceAllele": "C",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354762.1:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341691.1:p.Ser648Phe",
        "hgvsWellDefined": "NP_001341691.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2220,
          "referenceAllele": "C",
          "start": 2219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_005247934.2:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005247991.1:p.Ser648Phe",
        "hgvsWellDefined": "XP_005247991.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532955"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1981,
          "referenceAllele": "C",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_017007703.1:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863192.1:p.Ser648Phe",
        "hgvsWellDefined": "XP_016863192.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562385"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_017007704.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863193.1:p.Ser617Phe",
        "hgvsWellDefined": "XP_016863193.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562386"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_017007705.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863194.1:p.Ser617Phe",
        "hgvsWellDefined": "XP_016863194.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562387"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_017007706.2:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863195.1:p.Ser586Phe",
        "hgvsWellDefined": "XP_016863195.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_017007709.2:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863198.1:p.Ser586Phe",
        "hgvsWellDefined": "XP_016863198.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562389"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2127,
          "referenceAllele": "C",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XM_024453887.1:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309655.1:p.Ser617Phe",
        "hgvsWellDefined": "XP_024309655.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XR_002959706.1:n.1916C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2034,
          "referenceAllele": "C",
          "start": 2033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "XR_002959707.1:n.2034C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605639"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3069872243",
      "coordinates": [
        {
          "allele": "T",
          "end": 1958,
          "referenceAllele": "C",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001119.5:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001110.2:p.Ser586Phe",
        "hgvsWellDefined": "NP_001110.2:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676771"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354754.2:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341683.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341683.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354756.2:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341685.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_001341685.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "C",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354757.2:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341686.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341686.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354759.2:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341688.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_001341688.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354761.2:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341690.1:p.Ser648Phe",
        "hgvsWellDefined": "NP_001341690.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690315",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000683351.1:c.1943C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001354761.2:c.1943C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000508142.1:p.Ser648Phe"
          },
          "RefSeq": {
            "hgvs": "NP_001341690.1:p.Ser648Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2144,
          "referenceAllele": "C",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354762.2:c.1943C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341691.1:p.Ser648Phe",
        "hgvsWellDefined": "NP_001341691.1:p.Ser648Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1958,
          "referenceAllele": "C",
          "start": 1957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_014190.4:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054909.2:p.Ser586Phe",
        "hgvsWellDefined": "NP_054909.2:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2713,
          "referenceAllele": "C",
          "start": 2712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001286645.2:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001273574.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_001273574.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716247"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354755.2:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341684.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341684.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_001354758.2:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341687.1:p.Ser586Phe",
        "hgvsWellDefined": "NP_001341687.1:p.Ser586Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_014189.4:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054908.2:p.Ser617Phe",
        "hgvsWellDefined": "NP_054908.2:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000243",
      "geneNCBI_id": 118,
      "geneSymbol": "ADD1",
      "hgvs": [
        "NM_176801.3:c.1850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_789771.1:p.Ser617Phe",
        "hgvsWellDefined": "NP_789771.1:p.Ser617Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729639"
    }
  ],
  "type": "nucleotide"
}