{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA3212186795",
  "communityStandardTitle": [
    "NM_001365088.1(SLC12A6):c.379G= (p.Glu127=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199747285",
        "rs": 199747285
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 34260958,
          "referenceAllele": "C",
          "start": 34260957
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34260958C=",
        "CM000677.2:g.34260958C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 34553159,
          "referenceAllele": "C",
          "start": 34553158
        }
      ],
      "hgvs": [
        "NC_000015.9:g.34553159C=",
        "CM000677.1:g.34553159C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 32340451,
          "referenceAllele": "C",
          "start": 32340450
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32340451C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 82107,
          "referenceAllele": "G",
          "start": 82106
        }
      ],
      "hgvs": [
        "NG_007951.1:g.82107G=",
        "LRG_270:g.82107G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000719"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.8:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748536",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.379G="
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.379G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Glu127="
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Glu127="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000675289.1:n.1161G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1161,
          "referenceAllele": "G",
          "start": 1160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000676379.1:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502539.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776069"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "G",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000290209.9:c.226G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290209.5:p.Glu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS253627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000354181.7:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346112.3:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397702.6:c.202G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380814.2:p.Glu68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000397707.6:c.334G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380819.2:p.Glu112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277940"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000458406.6:c.202G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387725.2:p.Glu68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "G",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558589.5:c.352G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452776.1:p.Glu118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000558667.5:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453473.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373977"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559236.5:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452828.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374427"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559523.5:c.202G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452904.1:p.Glu68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000559664.5:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453702.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374763"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 198,
          "referenceAllele": "G",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560164.5:c.-39G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452705.1:n.-39G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 131,
          "referenceAllele": "G",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560332.1:c.-39G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454037.1:n.-39G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000560611.5:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454168.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375479"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1756,
          "referenceAllele": "G",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561080.5:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454069.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 463,
          "referenceAllele": "G",
          "start": 462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "ENST00000561120.5:c.352G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452771.1:p.Glu118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS375868"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407648",
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.1:c.202G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Glu68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009723"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408377",
      "coordinates": [
        {
          "allele": "G",
          "end": 404,
          "referenceAllele": "G",
          "start": 403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.1:c.202G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Glu68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409143",
      "coordinates": [
        {
          "allele": "G",
          "end": 795,
          "referenceAllele": "G",
          "start": 794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.1:c.352G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Glu118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409913",
      "coordinates": [
        {
          "allele": "G",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.1:c.334G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Glu112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009726"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829583033",
      "coordinates": [
        {
          "allele": "G",
          "end": 368,
          "referenceAllele": "G",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_005135.2:c.226G=",
        "LRG_270t1:c.226G="
      ],
      "proteinEffect": {
        "hgvs": "NP_005126.1:p.Glu76="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830247400",
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "G",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.1:c.379G=",
        "LRG_270t2:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.2:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 859,
          "referenceAllele": "G",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522267.1:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520569.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089422"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522268.1:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520570.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.1:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089424"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_429476.2:n.385G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.1:n.385G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 385,
          "referenceAllele": "G",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931961.1:n.385G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128015"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828165125",
      "coordinates": [
        {
          "allele": "G",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001365088.1:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352017.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000354181.8:c.379G="
          },
          "RefSeq": {
            "hgvs": "NM_001365088.1:c.379G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000346112.3:p.Glu127="
          },
          "RefSeq": {
            "hgvs": "NP_001352017.1:p.Glu127="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1626,
          "referenceAllele": "G",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_006720793.4:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006720856.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540170"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1630,
          "referenceAllele": "G",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XM_011522269.3:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011520571.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1629,
          "referenceAllele": "G",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "XR_931960.3:n.1629G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610074"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825407648",
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "G",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042494.2:c.202G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035959.1:p.Glu68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676038"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825408377",
      "coordinates": [
        {
          "allele": "G",
          "end": 397,
          "referenceAllele": "G",
          "start": 396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042495.2:c.202G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035960.1:p.Glu68="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676039"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409143",
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "G",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042496.2:c.352G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035961.1:p.Glu118="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676040"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825409913",
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "G",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_001042497.2:c.334G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035962.1:p.Glu112="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676041"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830247400",
      "coordinates": [
        {
          "allele": "G",
          "end": 715,
          "referenceAllele": "G",
          "start": 714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010914",
      "geneNCBI_id": 9990,
      "geneSymbol": "SLC12A6",
      "hgvs": [
        "NM_133647.2:c.379G="
      ],
      "proteinEffect": {
        "hgvs": "NP_598408.1:p.Glu127="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729120"
    }
  ],
  "type": "nucleotide"
}