HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001361326.1:p.[Pro217Ser;Pro218_Thr219insTyrSer;Thr219_Pro220insGly;Pro220_Pro221insGln;Asp222Gly;Asn224del;Asp226_Phe227delinsTrpIle;Gly229_Lys239delinsAlaSerSerGlyCysCysThrGlnThrGlyCys;Ala241_Leu246delinsAspGlyAla] |
CA658825035
NM_001374397.1:c.648dup
|