HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000009.1:p.[Ala180_Phe186delinsProIleArgAlaSerValSer;Gly188_Gln197delinsAlaSerCysSerLeuAlaGlnArgProArg;Glu199_Leu202delinsLysAsnThrSer;Lys204_Ser207delinsSerTrpHisLeu;Glu209Arg] |
CA2245700175
NM_000018.4:c.538del
|