Allele Registry

Canonical Allele Identifier: PA2827133671

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000199546

RCV000218135

RCV001544673

RCV003320596

RCV003462329

RCV003491945

ClinVar Variation:

216455

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Arg387His	CA045451 NM_001322013.1:c.1160G>A