Allele Registry

Canonical Allele Identifier: PA2827134137

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002417489

RCV003098626

ClinVar Variation:

1786112

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Asp513Tyr	CA366737979 NM_001322013.1:c.1537G>T