HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_000392.3:p.[Ala183delinsProVal;Val187Pro;Ile190_Val192delinsMetCys;Asn194_Asn196delinsThrArg;Leu198_Leu210delinsHisCysAlaSerArgArgGlnHisLysArgTrpProSer;Arg212delinsLeuGly] |
CA2695213788
NM_000401.3:c.547del
|