HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001341730.1:p.[Ile99_Leu114delinsSerArgArgArgAlaValAlaGlyAlaArgProTrpSerArgArgTrpPro;Ser116_Ala119delinsArgArgProVal;Lys121_Leu126delinsTrpAlaSerGluSerSer;Gln128Ter] |
CA2573106064
NM_001354801.1:c.296_308del
|