HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001293108.2:p.[Gln486_Ser487delinsArgAla;Phe489_Ser498delinsSerTrpProProTrpLeuSerCysArgAla;His500_Lys506delinsThrProSerThrAlaThrSer;Glu508_Tyr512delinsArgTrpProSer;His514Pro;Thr515_Gly516insArg] |
CA2575322102
NM_001306179.2:c.1456del
|