HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000499709.1:p.[His173_Phe189delinsLeuThrMetAlaMetAspLeuThrThrThrTrpThrSerLeuAlaAlaGly;Lys191_Val202delinsSerSerCysLeuThrArgMetValIleAlaValMetTrp] |
CA7724548
ENST00000670281.1:c.516_517dup
|