HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_004788.1:p.[Val201_Val207delinsCysAlaProAlaSerGlyGly;Asp209_Trp212delinsArgProSer;Gln214_Glu218delinsAlaProGlyValTrp;Glu220Arg;Asn222_Tyr225del;Asn228_Asp231del] |
CA89678321
NM_004797.4:c.600dup
|