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}, "referenceSequence": "http://reg.genome.network/refseq/RS011631" }, { "@id": "http://reg.genome.network/allele/PA2825624344", "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "A", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001127505.2:c.142A>T" ], "proteinEffect": { "hgvs": "NP_001120977.1:p.Arg48Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS011632" }, { "@id": "http://reg.genome.network/allele/PA2580300816", "coordinates": [ { "allele": "T", "end": 339, "referenceAllele": "A", "start": 338 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_004315.4:c.142A>T" ], "proteinEffect": { "hgvs": "NP_004306.3:p.Arg48Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS067626" }, { "coordinates": [ { "allele": "T", "end": 91, "referenceAllele": "A", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.1:c.-102A>T" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-102A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS523526" }, { "coordinates": [ { "allele": "T", "end": 167, "referenceAllele": "A", "start": 166 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "XM_005273504.3:c.28A>T" ], "proteinEffect": { "hgvs": "XP_005273561.1:p.Arg10Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS537465" }, { "@id": "http://reg.genome.network/allele/PA2830368717", "coordinates": [ { "allele": "T", "end": 143, "referenceAllele": "A", "start": 142 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_177924.5:c.94A>T" ], "proteinEffect": { "hgvs": "NP_808592.2:p.Arg32Ter", "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.94A>T" }, "RefSeq": { "hgvs": "NM_177924.5:c.94A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490272.1:p.Arg32Ter" }, "RefSeq": { "hgvs": "NP_808592.2:p.Arg32Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825624344", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "A", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001127505.3:c.142A>T" ], "proteinEffect": { "hgvs": "NP_001120977.1:p.Arg48Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS676901" }, { "coordinates": [ { "allele": "T", "end": 91, "referenceAllele": "A", "start": 90 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_001363743.2:c.-102A>T" ], "proteinEffect": { "hgvs": "NP_001350672.1:n.-102A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS690762" }, { "@id": "http://reg.genome.network/allele/PA2580300816", "coordinates": [ { "allele": "T", "end": 302, "referenceAllele": "A", "start": 301 } ], "gene": "http://reg.genome.network/gene/GN000735", "geneNCBI_id": 427, "geneSymbol": "ASAH1", "hgvs": [ "NM_004315.6:c.142A>T" ], "proteinEffect": { "hgvs": "NP_004306.3:p.Arg48Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS696102" } ], "type": "nucleotide" }