{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1839161503",
  "communityStandardTitle": [
    "NM_000077.5(CDKN2A):c.301G= (p.Gly101=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894094",
        "rs": 104894094
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 21971058,
          "referenceAllele": "C",
          "start": 21971057
        }
      ],
      "hgvs": [
        "NC_000009.12:g.21971058C=",
        "CM000671.2:g.21971058C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 21971057,
          "referenceAllele": "C",
          "start": 21971056
        }
      ],
      "hgvs": [
        "NC_000009.11:g.21971057C=",
        "CM000671.1:g.21971057C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "C",
          "end": 21961057,
          "referenceAllele": "C",
          "start": 21961056
        }
      ],
      "hgvs": [
        "NC_000009.10:g.21961057C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 28434,
          "referenceAllele": "G",
          "start": 28433
        }
      ],
      "hgvs": [
        "NG_007485.1:g.28434G=",
        "LRG_11:g.28434G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000608"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000304494.10:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307101.5:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745110",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304494.10:c.301G="
          },
          "RefSeq": {
            "hgvs": "NM_000077.5:c.301G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307101.5:p.Gly101="
          },
          "RefSeq": {
            "hgvs": "NP_000068.1:p.Gly101="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "endIntronDirection": "-",
          "endIntronOffset": 58374,
          "referenceAllele": "C",
          "start": 460,
          "startIntronDirection": "-",
          "startIntronOffset": 58375
        }
      ],
      "hgvs": [
        "ENST00000404796.3:c.348-58375C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385916.2:n.348-58375C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000579755.2:c.344G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462950.1:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760858",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000579755.2:c.344G="
          },
          "RefSeq": {
            "hgvs": "NM_058195.4:c.344G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000462950.1:p.Arg115="
          },
          "RefSeq": {
            "hgvs": "NP_478102.2:p.Arg115="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "referenceAllele": "G",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000304494.9:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307101.5:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255458"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "G",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000361570.4:c.343G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355153.4:p.Gly115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265548"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000380150.2:n.275G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS272797"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000380151.3:c.575G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369496.3:n.575G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272798"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 460,
          "endIntronDirection": "-",
          "endIntronOffset": 58374,
          "referenceAllele": "C",
          "start": 460,
          "startIntronDirection": "-",
          "startIntronOffset": 58375
        }
      ],
      "hgvs": [
        "ENST00000404796.2:c.348-58375C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385916.2:n.348-58375C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280163"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163,
          "referenceAllele": "G",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000479692.2:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466887.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS320008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000494262.5:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464952.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS331238"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000497750.1:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468510.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "referenceAllele": "G",
          "start": 339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000498124.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418915.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334201"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "G",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000498628.6:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467857.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS334594"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000530628.2:c.344G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432664.2:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355848"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 275,
          "referenceAllele": "G",
          "start": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000578845.2:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000467390.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000579122.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464202.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385693"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "ENST00000579755.1:c.344G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462950.1:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385996"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045149",
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_000077.4:c.301G=",
        "LRG_11t1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000068.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006141"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826197410",
      "coordinates": [
        {
          "allele": "G",
          "end": 607,
          "referenceAllele": "G",
          "start": 606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_001195132.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182061.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016536"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830153255",
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "G",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_058195.3:c.344G=",
        "LRG_11t2:c.344G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478102.2:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 575,
          "referenceAllele": "G",
          "start": 574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_058197.4:c.575G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478104.2:n.575G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040093"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XM_005251343.1:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005251400.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059508"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XM_011517675.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515977.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084863"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "referenceAllele": "G",
          "start": 699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XM_011517676.1:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515978.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084864"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XM_011517679.1:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515981.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084867"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XR_929159.1:n.702G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XR_929161.1:n.491G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XR_929162.1:n.491G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "G",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XR_929163.1:n.440G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125449"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 223,
          "referenceAllele": "G",
          "start": 222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XR_929164.1:n.223G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828112026",
      "coordinates": [
        {
          "allele": "G",
          "end": 374,
          "referenceAllele": "G",
          "start": 373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_001363763.1:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350692.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XM_011517675.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515977.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544638"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XM_011517676.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011515978.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544639"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 631,
          "referenceAllele": "G",
          "start": 630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "XR_929159.2:n.631G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS609129"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828112026",
      "coordinates": [
        {
          "allele": "G",
          "end": 655,
          "referenceAllele": "G",
          "start": 654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_001363763.2:c.148G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350692.1:p.Gly50="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690770"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825045149",
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_000077.5:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000068.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710796",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000304494.10:c.301G="
          },
          "RefSeq": {
            "hgvs": "NM_000077.5:c.301G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307101.5:p.Gly101="
          },
          "RefSeq": {
            "hgvs": "NP_000068.1:p.Gly101="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826197410",
      "coordinates": [
        {
          "allele": "G",
          "end": 331,
          "referenceAllele": "G",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_001195132.2:c.301G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001182061.1:p.Gly101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713789"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830153255",
      "coordinates": [
        {
          "allele": "G",
          "end": 405,
          "referenceAllele": "G",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_058195.4:c.344G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478102.2:p.Arg115="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000579755.2:c.344G="
          },
          "RefSeq": {
            "hgvs": "NM_058195.4:c.344G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000462950.1:p.Arg115="
          },
          "RefSeq": {
            "hgvs": "NP_478102.2:p.Arg115="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 605,
          "referenceAllele": "G",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001787",
      "geneNCBI_id": 1029,
      "geneSymbol": "CDKN2A",
      "hgvs": [
        "NM_058197.5:c.*224G="
      ],
      "proteinEffect": {
        "hgvs": "NP_478104.2:n.*224G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729017"
    }
  ],
  "type": "nucleotide"
}