HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001380429.1:p.[Val18_Val31delinsGlyAlaValProAlaLeuLeuProIleAlaGlyAlaHisGly;Leu33_Glu47delinsAlaAlaLysProProArgLeuProValArgAlaAlaAspArgGly] |
CA2695214940
NM_001393500.2:c.52dup
|