HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000416946.1:p.[Asn171Arg;Ser173_Leu174delinsPro;Ser176_Cys182delinsGlnProGluGlnProGly;Leu184_Glu193delinsProProGlyProHisHisArgHisPro;Glu196_Gly202del] |
CA2578858059
ENST00000434755.5:c.512_513del
|