HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000414.2:p.[Gly16_Arg20delinsGluGluAspSer;Phe22Ala;Ser24_Phe40delinsAlaAlaAlaGlnLeuTrpCysLeuValGluAlaGlyAspGlnLeuProAla;Cys42_Arg45delinsProAla] |
CA2036598624
NM_000423.3:c.47del
|