HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000420781.2:p.[Leu1309_Asp1318delinsValThrArgAsnTrpPheGlnMetMetLysLys;Gly1322_Leu1339delinsAlaTrpLysLysIleIleLysLysSerLysAlaTrpIleGlnThr] |
CA002565
ENST00000489037.2:c.3924_3927del
|