HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.6:p.[Trp113dup;Val115_Lys120delinsArgTrpSerSerProThrCys;Tyr122_Gln125delinsSerThrThrSer;Asn127_Thr136delinsSerGlyArgTrpSerIleProLeuAlaSer;Gly138_Leu144delinsSerProThrCys] |
CA645589501
NM_000545.8:c.340_343del
|