HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000016.1:p.[Cys189_His190del;Asn192Thr;Arg194_Cys196delinsThrArgAla;Phe198_Ala199delinsValPro;Asn201_Met202delinsProProThrCys;Tyr204_Ser209delinsThrCysCysCysProProPro;Val211Pro;Phe213_Tyr214delinsThrPhe;Pro216_Leu218delinsPheSer] |
CA2686921907
NM_000025.3:c.566del
|