HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000384420.1:p.[Ile230_Leu231del;Tyr233_Ala243del;Lys245_Phe247del;Thr249_Val252delinsProArg;Ser254_Val255insPro;Gln257_His260delinsThrArgPro] |
CA913190268
ENST00000403558.1:c.688_691del
|