Allele Registry

Canonical Allele Identifier: PA2827101072

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001013276

RCV001355480

RCV003594071

ClinVar Variation:

820125

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Val474Ala	CA366739699 NM_001322003.2:c.1421T>C