HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001158009.1:p.[Gln498_Ala503delinsTyrArgLysLysSerLys;Gln505_Val510delinsSerLysGlnGlyCys;Glu512_Ala513delinsCysTrp;Asp515_Glu521delinsProLys;Glu523_Glu524delinsAsnSer;Glu526del;Gln528del] |
CA2651016869
NM_001164537.2:c.1490_1491insGT
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