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}, "referenceSequence": "http://reg.genome.network/refseq/RS029484" }, { "@id": "http://reg.genome.network/allele/PA2829524949", "coordinates": [ { "allele": "A", "end": 430, "referenceAllele": "G", "start": 429 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_004315.5:c.233G>A" ], "proteinEffect": { "hgvs": "NP_004306.3:p.Trp78Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS029485" }, { "@id": "http://reg.genome.network/allele/PA2830368763", "coordinates": [ { "allele": "A", "end": 497, "referenceAllele": "G", "start": 496 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_177924.3:c.185G>A" ], "proteinEffect": { "hgvs": "NP_808592.2:p.Trp62Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS043384" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "XM_005273504.2:c.119G>A" ], "proteinEffect": { "hgvs": "XP_005273561.1:p.Trp40Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS067626" }, { "coordinates": [ { "allele": "A", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.1:c.-11G>A" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-11G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523526" }, { "coordinates": [ { "allele": "A", "end": 258, "referenceAllele": "G", "start": 257 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "XM_005273504.3:c.119G>A" ], "proteinEffect": { "hgvs": "XP_005273561.1:p.Trp40Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS537465" }, { "@id": "http://reg.genome.network/allele/PA2830368763", "coordinates": [ { "allele": "A", "end": 234, "referenceAllele": "G", "start": 233 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_177924.5:c.185G>A" ], "proteinEffect": { "hgvs": "NP_808592.2:p.Trp62Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS672816", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000637790.2:c.185G>A" }, "RefSeq": { "hgvs": "NM_177924.5:c.185G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490272.1:p.Trp62Ter" }, "RefSeq": { "hgvs": "NP_808592.2:p.Trp62Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573065552", "coordinates": [ { "allele": "A", "end": 414, "referenceAllele": "G", "start": 413 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001127505.3:c.254G>A" ], "proteinEffect": { "hgvs": "NP_001120977.1:p.Trp85Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS676901" }, { "coordinates": [ { "allele": "A", "end": 182, "referenceAllele": "G", "start": 181 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.2:c.-11G>A" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-11G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690762" }, { "@id": "http://reg.genome.network/allele/PA2829524949", "coordinates": [ { "allele": "A", "end": 393, "referenceAllele": "G", "start": 392 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_004315.6:c.233G>A" ], "proteinEffect": { "hgvs": "NP_004306.3:p.Trp78Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS696102" } ], "type": "nucleotide" }