HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000508089.1:p.[Ile1230_Phe1245del;Ile1247del;Ser1249_Gly1251del;Ala1253_Glu1259delinsSerArgGln] |
CA618006103
ENST00000682788.1:c.3687_3688insC
|