Allele Registry

Canonical Allele Identifier: PA2827121833

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000128979

RCV000586384

RCV001082886

RCV001818294

RCV003492546

RCV003989321

ClinVar Variation:

135946

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Thr171Lys	CA012968 NM_001322008.2:c.512C>A