HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000367596.4:p.[His231del;Ser233_Ile234del;Asp236_Val237delinsPro;Val239_Asp244delinsSerGln;Thr246del;Gly248_Thr256del;Arg258_Gly260del] |
CA980394045
ENST00000378345.8:c.690_691dup
|