Allele Registry

Canonical Allele Identifier: PA891864625

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000166727

RCV000630121

RCV002466458

RCV003995528

ClinVar Variation:

187042

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Glu473Lys	CA009646 NM_000535.7:c.1417G>A