{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2365855962",
  "communityStandardTitle": [
    "NM_000022.4(ADA):c.631C= (p.Arg211=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908740",
        "rs": 121908740
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 44623054,
          "referenceAllele": "G",
          "start": 44623053
        }
      ],
      "hgvs": [
        "NC_000020.11:g.44623054G=",
        "CM000682.2:g.44623054G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000068"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 43251695,
          "referenceAllele": "G",
          "start": 43251694
        }
      ],
      "hgvs": [
        "NC_000020.10:g.43251695G=",
        "CM000682.1:g.43251695G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000044"
    },
    {
      "chromosome": "20",
      "coordinates": [
        {
          "allele": "G",
          "end": 42685109,
          "referenceAllele": "G",
          "start": 42685108
        }
      ],
      "hgvs": [
        "NC_000020.9:g.42685109G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000020"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 33682,
          "referenceAllele": "C",
          "start": 33681
        }
      ],
      "hgvs": [
        "NG_007385.1:g.33682C=",
        "LRG_16:g.33682C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000559"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 722,
          "referenceAllele": "C",
          "start": 721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.6:n.722C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905402"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 917,
          "referenceAllele": "C",
          "start": 916
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536076.2:c.478C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512234.1:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.6:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905761"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 744,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 744,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.2:c.607-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:n.607-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.6:c.*15C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.*15C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 314,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 314,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695889.1:c.219-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512240.1:n.219-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907386"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2434,
          "referenceAllele": "C",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695890.1:n.2434C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 218,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695891.1:c.219-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512241.1:n.219-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907388"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "referenceAllele": "C",
          "start": 872
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695927.1:c.709C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512270.1:p.Arg237="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907420"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 724,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 724,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695949.1:c.604-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512281.1:n.604-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907431"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695957.1:c.*122C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512286.1:n.*122C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907439"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 287,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 287,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695991.1:c.217-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512314.1:n.217-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907468"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 679,
          "referenceAllele": "C",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695992.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512315.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907469"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695993.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512316.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907470"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695994.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512317.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907471"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 312,
          "referenceAllele": "C",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695995.1:c.241C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512318.1:p.Arg81="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000695996.1:n.702C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907473"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696003.1:n.723C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907480"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696004.1:n.723C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907481"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 128,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 128,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696005.1:c.129-124C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907482"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 717,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 717,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696006.1:c.607-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512325.1:n.607-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907483"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696007.1:c.482C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512326.1:n.482C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2909,
          "referenceAllele": "C",
          "start": 2908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696008.1:n.2909C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696017.1:c.628C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512333.1:p.Arg210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907494"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 726,
          "referenceAllele": "C",
          "start": 725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696034.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512343.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907511"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696035.1:n.741C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907512"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1321,
          "referenceAllele": "C",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696036.1:n.1321C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907513"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696037.1:n.2308C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907514"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696038.1:c.*377C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512344.1:n.*377C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907515"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696039.1:n.919C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907516"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 707,
          "referenceAllele": "C",
          "start": 706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696058.1:c.628C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512361.1:p.Arg210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907535"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696059.1:c.*576C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512362.1:n.*576C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907536"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 827,
          "referenceAllele": "C",
          "start": 826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696060.1:c.700C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512363.1:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907537"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696061.1:c.628C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512364.1:p.Arg210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907538"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 714,
          "referenceAllele": "C",
          "start": 713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696062.1:c.694C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512365.1:p.Arg232="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907539"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696063.1:c.706C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512366.1:p.Arg236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907540"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696064.1:c.478C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512367.1:p.Arg160="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907541"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 199,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 199,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696065.1:c.66-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512368.1:n.66-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907542"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 866,
          "referenceAllele": "C",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696073.1:n.866C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696074.1:n.247C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907551"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "referenceAllele": "C",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696075.1:c.*601C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512374.1:n.*601C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907552"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "referenceAllele": "C",
          "start": 807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696076.1:c.700C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512375.1:p.Arg234="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907553"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "referenceAllele": "C",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696077.1:c.625C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512376.1:p.Arg209="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 764,
          "referenceAllele": "C",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696078.1:c.628C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512377.1:p.Arg210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907555"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 699,
          "referenceAllele": "C",
          "start": 698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696079.1:c.628C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512378.1:p.Arg210="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 741,
          "referenceAllele": "C",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696080.1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512379.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696081.1:n.750C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 737,
          "referenceAllele": "C",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696082.1:c.706C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512380.1:p.Arg236="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1512,
          "referenceAllele": "C",
          "start": 1511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696083.1:n.1512C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 732,
          "referenceAllele": "C",
          "start": 731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696084.1:n.732C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696104.1:c.363-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512399.1:n.363-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907580"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000696105.1:c.*172C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512400.1:n.*172C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907581"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.9:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751103",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.631C="
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.631C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Arg211="
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Arg211="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 766,
          "referenceAllele": "C",
          "start": 765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000372874.8:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361965.4:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 454,
          "endIntronDirection": "-",
          "endIntronOffset": 878,
          "referenceAllele": "G",
          "start": 454,
          "startIntronDirection": "-",
          "startIntronOffset": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009019",
      "geneNCBI_id": 11142,
      "geneSymbol": "PKIG",
      "hgvs": [
        "ENST00000372887.5:c.152-879G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361978.1:n.152-879G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS269363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000464097.5:n.305C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307998"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 715,
          "referenceAllele": "C",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000492931.5:n.715C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330201"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "referenceAllele": "C",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000536532.5:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440946.1:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 690,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 690,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000537820.1:c.607-124C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441818.1:n.607-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "ENST00000539235.5:c.*15C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446464.1:n.*15C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361744"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087702167",
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "referenceAllele": "C",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.2:c.631C=",
        "LRG_16t1:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006087"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 660,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 660,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_005260236.2:c.607-124C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005260293.1:n.607-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062714"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 569,
          "referenceAllele": "C",
          "start": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528478.1:c.226C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526780.1:p.Arg76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 814,
          "referenceAllele": "C",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XM_011528479.1:c.226C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011526781.1:p.Arg76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 685,
          "referenceAllele": "C",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "XR_244129.1:n.685C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087702167",
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.3:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510735"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.1:c.226C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:p.Arg76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514712"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 757,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 757,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.1:c.607-124C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:n.607-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514713"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.1:n.782C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS528604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3087702167",
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_000022.4:c.631C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000013.2:p.Arg211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662286",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000372874.9:c.631C="
          },
          "RefSeq": {
            "hgvs": "NM_000022.4:c.631C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000361965.4:p.Arg211="
          },
          "RefSeq": {
            "hgvs": "NP_000013.2:p.Arg211="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 607,
          "referenceAllele": "C",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322050.2:c.226C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308979.1:p.Arg76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718065"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 698,
          "endIntronDirection": "-",
          "endIntronOffset": 123,
          "referenceAllele": "C",
          "start": 698,
          "startIntronDirection": "-",
          "startIntronOffset": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NM_001322051.2:c.607-124C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001308980.1:n.607-124C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000186",
      "geneNCBI_id": 100,
      "geneSymbol": "ADA",
      "hgvs": [
        "NR_136160.2:n.723C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730959"
    }
  ],
  "type": "nucleotide"
}