| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000423862.1:p.Cys48Ter |
CA397842565
ENST00000514944.5:c.144C>A
CA3271852236
ENST00000514944.5:c.143_144delinsAA
CA3271852237
ENST00000514944.5:c.143_144delinsAG
|