HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000320709.2:p.[Val201_Val207delinsCysAlaProAlaSerGlyGly;Asp209_Trp212delinsArgProSer;Gln214_Glu218delinsAlaProGlyValTrp;Glu220Arg;Asn222_Tyr225del;Asn228_Asp231del] |
CA89678321
ENST00000320741.7:c.600dup
|