HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182728.1:p.[Ser543_Asn550delinsTyrLeuLysHisArgCysGlnArg;Gly552_Leu558delinsGlnPro;Glu561_Ala565del;Pro567_Ser569del;Ala571_Phe573delinsGlyGly] |
CA2830773958
NM_001195799.2:c.1628_1629del
|