This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PMS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514563.1:p.[His567_Glu574delinsIleMetLysHisSerLysValLys;Glu576_Asp596delinsAsnArgIleThrGlySerLeuGlyGlnArgPheValLeuGluLysIleLysGlnProLysMet]
CA916079939
ENST00000699754.1:c.1699del