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}, "referenceSequence": "http://reg.genome.network/refseq/RS510809" }, { "@id": "http://reg.genome.network/allele/PA2741861363", "coordinates": [ { "allele": "A", "end": 975, "referenceAllele": "G", "start": 974 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.1:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Trp158Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS513060" }, { "coordinates": [ { "allele": "A", "end": 942, "referenceAllele": "G", "start": 941 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.1:n.942G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS527809" }, { "@id": "http://reg.genome.network/allele/PA2825206642", "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_000520.6:c.441G>A" ], "proteinEffect": { "hgvs": "NP_000511.2:p.Trp147Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS674877", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000268097.10:c.441G>A" }, "RefSeq": { "hgvs": "NM_000520.6:c.441G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000268097.6:p.Trp147Ter" }, "RefSeq": { "hgvs": "NP_000511.2:p.Trp147Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2741861363", "coordinates": [ { "allele": "A", "end": 516, "referenceAllele": "G", "start": 515 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NM_001318825.2:c.474G>A" ], "proteinEffect": { "hgvs": "NP_001305754.1:p.Trp158Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS684622" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.2:n.483G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS703516" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "G", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN004878", "geneNCBI_id": 3073, "geneSymbol": "HEXA", "hgvs": [ "NR_134869.3:n.483G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730887" } ], "type": "nucleotide" }