HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.5:p.[Asn257_Arg272delinsThrSerSerArgArgCysValSerThrThrGlyLeuProThrGlyAla;Glu274_Asp284delinsLysLysProSerGlyThrSerTrpProTrp;Tyr286Arg] |
CA2695217551
NM_000545.6:c.768del
|