Allele Registry

Canonical Allele Identifier: PA2827123413

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001009980

RCV001068947

ClinVar Variation:

818413

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Asp244Ala	CA366742735 NM_001322009.2:c.731A>C