HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000048.1:p.[Gly1306Ala;Gly1308_Ile1319delinsGluGluValProLeuArgSerSerThrArgLysTyr;Val1321_Ser1328delinsTyrLeuProThrThrLeuGlnVal;Thr1330_Lys1335delinsProGluMetLysGlyArg] |
CA7739159
NM_000057.4:c.3917del
|