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"NM_001018005.2:c.118G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000385107.4:p.Glu40Ter" }, "RefSeq": { "hgvs": "NP_001018005.1:p.Glu40Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825320604", "coordinates": [ { "allele": "T", "end": 201, "referenceAllele": "G", "start": 200 } ], "gene": "http://reg.genome.network/gene/GN012010", "geneNCBI_id": 7168, "geneSymbol": "TPM1", "hgvs": [ "NM_001018006.2:c.118G>T" ], "proteinEffect": { "hgvs": "NP_001018006.1:p.Glu40Ter", "hgvsWellDefined": "NP_001018006.1:p.Glu40_Met284delinsAspGluLeuValSerLeuGlnLysLysLeuLysGlyThrGluAspGluLeuAspLysTyrSerGluAlaLeuLysAspAlaGlnGluLysLeuGluLeuAlaGluLysLysAlaThrAspAlaGluAlaAspValAlaSerLeuAsnArgArgIleGlnLeuValGluGluGluLeuAspArgAlaGlnGluArgLeuAlaThrAlaLeuGlnLysLeuGluGluAlaGluLysAlaAlaAspGluSerGluArgGlyMetLysValIleGluSerArgAlaGlnLysAspGluGluLysMetGluIleGlnGluIleGlnLeuLysGluAlaLysHisIleAlaGluAspAlaAspArgLysTyrGluGluValAlaArgLysLeuValIleIleGluSerAspLeuGluArgAlaGluGluArgAlaGluLeuSerGluGlyGlnValArgGlnLeuGluGluGlnLeuArgIleMetAspGlnThrLeuLysAlaLeuMetAlaAlaGluAspLysTyrSerGlnLysGluAspArgTyrGluGluGluIleLysValLeuSerAspLysLeuLysGluAlaGluThrArgAlaGluPheAlaGluArgSerValThrLysLeuGluLysSerIleAspAspLeuGluGluLysValAlaHisAlaLysGluGluAsnLeuSerMetHisGlnMetLeuAspGlnThrLeuLeuGluLeuAsnAsnMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS675570" }, { "coordinates": [ { "allele": "T", "end": 323, "endIntronDirection": "+", "endIntronOffset": 199, "referenceAllele": "G", "start": 323, "startIntronDirection": "+", "startIntronOffset": 198 } ], "gene": "http://reg.genome.network/gene/GN012010", "geneNCBI_id": 7168, "geneSymbol": "TPM1", "hgvs": [ "NM_001018007.2:c.240+199G>T" ], "proteinEffect": { "hgvs": "NP_001018007.1:n.240+199G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS675571" }, { "coordinates": [ { "allele": "T", "end": 323, "endIntronDirection": "+", "endIntronOffset": 199, "referenceAllele": "G", "start": 323, "startIntronDirection": "+", "startIntronOffset": 198 } ], "gene": "http://reg.genome.network/gene/GN012010", "geneNCBI_id": 7168, "geneSymbol": "TPM1", "hgvs": [ "NM_001018020.2:c.240+199G>T" ], "proteinEffect": { "hgvs": "NP_001018020.1:n.240+199G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS675576" }, { "coordinates": [ { "allele": "T", "end": 323, "endIntronDirection": "+", "endIntronOffset": 199, "referenceAllele": "G", "start": 323, "startIntronDirection": "+", "startIntronOffset": 198 } ], "gene": "http://reg.genome.network/gene/GN012010", "geneNCBI_id": 7168, "geneSymbol": "TPM1", "hgvs": [ "NM_001301244.2:c.240+199G>T" ], "proteinEffect": { "hgvs": "NP_001288173.1:n.240+199G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS683393" } ], "type": "nucleotide" }