HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001361622.1:p.[Leu531Arg;Phe533_Leu538delinsHisLeuProAsnProSerAla;Val540_Gln543delinsCysGlyProAlaAla;Ile545_Ser557delinsGlnArgProProValGlnValProAlaProGluGluHis] |
CA2579545779
NM_001374693.1:c.1580_1583dup
|