Allele Registry

Canonical Allele Identifier: PA2827127685

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000477635

RCV002418417

ClinVar Variation:

411077

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.His514Tyr	CA046594 NM_001322010.2:c.1540C>T