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Canonical Allele Identifier: Get Identifier
Gene: PMS2 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000514570.1:p.[His442_Glu449delinsIleMetLysHisSerLysValLys;Glu451_Asp471delinsAsnArgIleThrGlySerLeuGlyGlnArgPheValLeuGluLysIleLysGlnProLysMet]
CA916079939
ENST00000699762.1:c.1324del