Allele Registry

Canonical Allele Identifier: PA2827112381

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000166727

RCV000630121

RCV002466458

RCV003995528

ClinVar Variation:

187042

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308934.1:p.Glu338Lys	CA009646 NM_001322005.2:c.1012G>A