Allele Registry

Canonical Allele Identifier: PA2827120572

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001264444

ClinVar Variation:

984459

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Asp598Glu	CA366737972 NM_001322008.2:c.1794C>G CA366737973 NM_001322008.2:c.1794C>A