Allele Registry

Canonical Allele Identifier: PA2827129806

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000076843

RCV000115674

RCV000144654

RCV000223542

RCV000524457

RCV002298464

RCV003149756

RCV003452990

ClinVar Variation:

91328

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Glu394Lys	CA010854 NM_001322011.2:c.1180G>A