HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000268.1:p.[Gly218_Ile224delinsAlaSerMetLysIleThrPhe;Gln226_Val230delinsSerTrpLysThrPheLeuAsn;Gln232_Phe233delinsCysArg;Gln235_Arg241delinsAlaLeuValSerAlaSerAsp;Arg243_Val245delinsTrpLeu;Gly247del] |