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"http://reg.genome.network/refseq/RS551333" }, { "coordinates": [ { "allele": "A", "end": 1248, "referenceAllele": "G", "start": 1247 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "XM_011533669.2:c.410G>A" ], "proteinEffect": { "hgvs": "XP_011531971.1:p.Trp137Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS671514", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000395144.7:c.410G>A" }, "RefSeq": { "hgvs": "NM_033159.4:c.410G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378576.2:p.Trp137Ter" }, "RefSeq": { "hgvs": "NP_149349.2:p.Trp137Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580529023", "coordinates": [ { "allele": "A", "end": 543, "referenceAllele": "G", "start": 542 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153282.3:c.410G>A" ], "proteinEffect": { "hgvs": "NP_695014.1:p.Trp137Ter", "hgvsWellDefined": 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], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153283.3:c.-137G>A" ], "proteinEffect": { "hgvs": "NP_695015.1:n.-137G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS700338" }, { "coordinates": [ { "allele": "A", "end": 109, "endIntronDirection": "-", "endIntronOffset": 341, "referenceAllele": "G", "start": 109, "startIntronDirection": "-", "startIntronOffset": 342 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NM_153285.3:c.-26-342G>A" ], "proteinEffect": { "hgvs": "NP_695017.1:n.-26-342G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS700339" }, { "coordinates": [ { "allele": "A", "end": 1028, "referenceAllele": "G", "start": 1027 } ], "gene": "http://reg.genome.network/gene/GN005320", "geneNCBI_id": 3373, "geneSymbol": "HYAL1", "hgvs": [ "NR_047690.2:n.1028G>A" ], "referenceSequence": 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} ], "type": "nucleotide" }