HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000536.6:p.[Val115_Met118delinsCysGlyGluAspGlyGln;Lys120_Gln124delinsLeuProAlaAlaAla;Asn127_Ile128del;Gln130_Leu144delinsThrAlaGlyGlyGlyArgTyrHisTrpProGlnProValProPro] |
CA2018007656
NM_000545.8:c.342dup
|