HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000124.1:p.[Val132_Gln143delinsGluHisValThrLeuArgMetAlaAspAlaSerSer;Cys145Val;Asn147_Tyr161delinsIleValLeuIleThrArgTrpPheAlaProValLeuArgAspIle] |
CA2695236348
NM_000133.4:c.395del
|