Allele Registry

Canonical Allele Identifier: PA2827135874

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001009980

RCV001068947

ClinVar Variation:

818413

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Asp379Ala	CA366742735 NM_001322014.1:c.1136A>C