Allele Registry

Canonical Allele Identifier: PA2827120566

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002424290

ClinVar Variation:

1785978

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Ala596Val	CA366737984 NM_001322008.2:c.1787C>T