HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000341.2:p.[Ile2231_Tyr2234delinsMetArg;Val2236del;Thr2239_Gln2252delinsSerHisArgProHisTrp;Glu2254_Asp2257delinsArgCys;Leu2260_Pro2262del] |
CA2586967020
NM_000350.3:c.6693del
|