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}, "referenceSequence": "http://reg.genome.network/refseq/RS029484" }, { "@id": "http://reg.genome.network/allele/PA2829524949", "coordinates": [ { "allele": "A", "end": 431, "referenceAllele": "G", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_004315.5:c.234G>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": 498, "referenceAllele": "G", "start": 497 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_177924.3:c.186G>A" ], "proteinEffect": { "hgvs": "NP_808592.2:p.Trp62Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS043384" }, { "coordinates": [ { "allele": "A", "end": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "XM_005273504.2:c.120G>A" ], "proteinEffect": { "hgvs": "XP_005273561.1:p.Trp40Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS067626" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.1:c.-10G>A" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-10G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS523526" }, { "coordinates": [ { "allele": "A", "end": 259, "referenceAllele": "G", "start": 258 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "XM_005273504.3:c.120G>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": 235, "referenceAllele": "G", "start": 234 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_177924.5:c.186G>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.186G>A" }, "RefSeq": { "hgvs": "NM_177924.5:c.186G>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": 415, "referenceAllele": "G", "start": 414 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001127505.3:c.255G>A" ], "proteinEffect": { "hgvs": "NP_001120977.1:p.Trp85Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS676901" }, { "coordinates": [ { "allele": "A", "end": 183, "referenceAllele": "G", "start": 182 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.2:c.-10G>A" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-10G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS690762" }, { "@id": "http://reg.genome.network/allele/PA2829524949", "coordinates": [ { "allele": "A", "end": 394, "referenceAllele": "G", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_004315.6:c.234G>A" ], "proteinEffect": { "hgvs": "NP_004306.3:p.Trp78Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS696102" } ], "type": "nucleotide" }