Allele Registry

Canonical Allele Identifier: PA891864233

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000567647

RCV001247550

ClinVar Variation:

480343

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Pro167Leu	CA366744227 NM_000535.7:c.500C>T