Allele Registry

Canonical Allele Identifier: PA2827127696

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000485467

RCV002420234

ClinVar Variation:

422283

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308939.1:p.Thr516Lys	CA16618491 NM_001322010.2:c.1547C>A