HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000143.2:p.[Val388Gly;Asn390_Phe396delinsHisAspGlnGlyProLeuPro;Leu398_Asp399delinsGlyArgPro;Gln401_Asp404delinsGluArgProGly;Asp406_Lys418delinsHisGlyLeuProGluGlyLeuHisValGlnGln] |
CA913014093
NM_000152.5:c.1163_1164del
|