HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000377435.3:p.[Gly49Asp;Ala52_Val69delinsProThrSerSerProProProProArgSerArgProSerArgThrSerArgTrp;Leu71_Lys78delinsCysMetArgArgSerSerGlyArg] |
CA2573054518
ENST00000393853.8:c.146del
|