Allele Registry

Canonical Allele Identifier: PA2827107769

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001981285

RCV002407258

ClinVar Variation:

1492854

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Lys475Gln	CA366739697 NM_001322004.2:c.1423A>C