HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001182729.1:p.[Ser416_Asn423delinsTyrLeuLysHisArgCysGlnArg;Gly425_Leu431delinsGlnPro;Glu434_Ala438del;Pro440_Ser442del;Ala444_Phe446delinsGlyGly] |
CA2830773958
NM_001195800.2:c.1247_1248del
|