{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA217225",
  "communityStandardTitle": [
    "NM_002055.5(GFAP):c.858G>A (p.Arg286=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=77405[alleleid]",
        "alleleId": 77405,
        "preferredName": "NM_002055.5(GFAP):c.858G>A (p.Arg286=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/66508",
        "RCV": [
          "RCV000056912"
        ],
        "variationId": 66508
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-42989088-C-T",
        "id": "17-42989088-C-T",
        "variant": "17:42989088 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42989088C>T?assembly=hg19",
        "id": "chr17:g.42989088C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44911720C>T?assembly=hg38",
        "id": "chr17:g.44911720C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2289681",
        "rs": 2289681
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-42989088-C-T?dataset=gnomad_r2_1",
        "id": "17-42989088-C-T",
        "variant": "17:42989088 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44911720-C-T?dataset=gnomad_r3",
        "id": "17-44911720-C-T",
        "variant": "17:44911720 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44911720-C-T?dataset=gnomad_r4",
        "id": "17-44911720-C-T",
        "variant": "17:44911720 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44911720,
          "referenceAllele": "C",
          "start": 44911719
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44911720C>T",
        "CM000679.2:g.44911720C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42989088,
          "referenceAllele": "C",
          "start": 42989087
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42989088C>T",
        "CM000679.1:g.42989088C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 40344614,
          "referenceAllele": "C",
          "start": 40344613
        }
      ],
      "hgvs": [
        "NC_000017.9:g.40344614C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8827,
          "referenceAllele": "G",
          "start": 8826
        }
      ],
      "hgvs": [
        "NG_008401.1:g.8827G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001080"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.11:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.8:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824873"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.10:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.5:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.7:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755556"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "referenceAllele": "G",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586127.6:n.1387G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.6:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.2:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761054"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000587997.6:n.334G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.3:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.2:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761134",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.858G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.858G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Arg286="
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Arg286="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2012,
          "referenceAllele": "G",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591327.2:n.2012G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS761236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 398,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.6:c.619-399G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:n.619-399G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761278"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 858,
          "referenceAllele": "G",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638281.1:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491088.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000638618.1:c.513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492832.1:p.Arg171="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764619"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000639277.1:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492432.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000640552.1:n.872G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS765549"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000253408.9:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253408.4:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 811,
          "referenceAllele": "G",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000376990.8:c.*257G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366189.4:n.*257G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000435360.6:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403962.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 866,
          "referenceAllele": "G",
          "start": 865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000586793.5:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000468500.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS389642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000587997.5:c.334G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 764,
          "referenceAllele": "G",
          "start": 763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588316.1:c.762G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465629.1:p.Arg254="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390693"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 238,
          "referenceAllele": "G",
          "start": 237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588640.5:n.238G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS390922"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 3603,
          "referenceAllele": "G",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 3604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588735.1:c.83-3604G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000466598.1:n.83-3604G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS390990"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 532,
          "referenceAllele": "G",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000588957.5:c.126G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465565.1:p.Arg42="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS391148"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000590922.1:n.508G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS392532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 492,
          "referenceAllele": "G",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000591719.5:n.492G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393072"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "endIntronDirection": "-",
          "endIntronOffset": 398,
          "referenceAllele": "G",
          "start": 636,
          "startIntronDirection": "-",
          "startIntronOffset": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "ENST00000592320.5:c.619-399G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000465320.1:n.619-399G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS393482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774505",
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.2:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012172"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298135",
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.1:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829353202",
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.4:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027381"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828120342",
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.1:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523597"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450690.1:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306458.1:p.Arg354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450691.1:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306459.1:p.Arg354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450692.1:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306460.1:p.Arg354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584224"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1128,
          "referenceAllele": "G",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "XM_024450693.1:c.1062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306461.1:p.Arg354="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584225"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829353202",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_002055.5:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_002046.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665321",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000588735.3:c.858G>A"
          },
          "RefSeq": {
            "hgvs": "NM_002055.5:c.858G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000466598.2:p.Arg286="
          },
          "RefSeq": {
            "hgvs": "NP_002046.1:p.Arg286="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825774505",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001131019.3:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124491.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677194"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298135",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.2:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826298135",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001242376.3:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001229305.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714309"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828120342",
      "coordinates": [
        {
          "allele": "A",
          "end": 872,
          "referenceAllele": "G",
          "start": 871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004235",
      "geneNCBI_id": 2670,
      "geneSymbol": "GFAP",
      "hgvs": [
        "NM_001363846.2:c.858G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350775.1:p.Arg286="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720802"
    }
  ],
  "type": "nucleotide"
}