HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000379359.3:p.[Leu347_Asn366delinsThrSerProGluHisTrpThrArgGlnLeuArgThrArgValAlaThrThrThrThr;Pro368_Ala370delinsHisTrp;Ala372_Pro376delinsTrpProAspArgArg] |
CA915951143
ENST00000396044.8:c.1035_1038del
|