HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.6:p.[Gln486_Ser487delinsArgAla;Phe489_Ser498delinsSerTrpProProTrpLeuSerCysArgAla;His500_Lys506delinsThrProSerThrAlaThrSer;Glu508_Tyr512delinsArgTrpProSer;His514Pro;Thr515_Gly516insArg] |
CA2575322102
NM_000545.8:c.1456del
|