Allele Registry

Canonical Allele Identifier: PA2827130824

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001312363

RCV003165499

RCV003997645

ClinVar Variation:

220557

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Val164Met	CA349875 NM_001322012.1:c.490G>A