Allele Registry

Canonical Allele Identifier: PA2827137286

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000128979

RCV000586384

RCV001082886

RCV001818294

RCV003492546

RCV003989321

ClinVar Variation:

135946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Thr174Lys	CA012968 NM_001322015.1:c.521C>A