HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000324856.6:p.[Ala218Gly;Gln220_Asn226delinsProAlaAlaArgAspCysGlnArgPro;Gly227_Leu228insHis;Asp229_Ser232delinsLeuArgLeuGln;Phe234_Ile238delinsGlyHisLeuValGly;Ser240_Ala241del;Val243_Thr244delinsHisPro;Tyr246_Asn247delinsGln] |
CA504892388
ENST00000326873.12:c.652dup
|