HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000490530.1:p.[His669_Ser672delinsThrTrpAsp;Glu674_Lys678del;Glu680_Met684delinsArgVal;Tyr686_Thr687delinsLeu;Asn689_Phe690del;Ser692_Leu698del] |
CA2578837761
ENST00000637807.1:c.2004dup
|