HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_543153.1:p.[Gly519Val;Leu521_Val522delinsTrpTrp;Leu524_Ile529delinsTrpCysSerSerSerSerTrp;Val531_Arg537delinsLeuSerCysSerGlyAlaGly;Ala540_Trp541delinsGlyCys;Pro543_Ser548delinsSerAlaCysAlaPro] |
CA2580081048
NM_080877.2:c.1556del
|