Allele Registry

Canonical Allele Identifier: PA2827101080

Gene: PMS2 HGNC NCBI

ClinVar Allele:

186080

ClinVar RCV:

RCV000168273

RCV000486825

RCV000574365

RCV003468829

RCV003995619

ClinVar Variation:

188287

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Lys475Glu	CA010309 NM_001322003.2:c.1423A>G