HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000381077.4:p.[Trp113_Ala122delinsLeuAlaSerMetProValProSerHisSer;Phe124_Asn126del;Val128_Ala130delinsGlnLysArg;Glu132_Gly134delinsCysCys;Pro136_Ser142del] |
CA2624019936
ENST00000397990.5:c.336dup
|