Allele Registry

Canonical Allele Identifier: PA2827135145

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000567647

RCV001247550

ClinVar Variation:

480343

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Pro167Leu	CA366744227 NM_001322014.1:c.500C>T