| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| ENSP00000419103.2:p.Ala1708Glu |
CA003252
ENST00000494123.6:c.5123C>A
CA3273046592
ENST00000494123.6:c.5123_5124delinsAA
|