HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000248.2:p.[Ser1158del;Gln1160_Arg1167delinsArgAlaAspArgAspGluGln;Glu1170_Arg1176delinsArgGlyArgValProGlu;Leu1178_Gln1184delinsAlaAlaGlyProGlyGlyGly;Glu1186Ala;Ala1187_Thr1188insAlaArgGly] |
CA2123446802
NM_000257.4:c.3471dup
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