Allele Registry

Canonical Allele Identifier: PA2827138574

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000772772

RCV001241244

ClinVar Variation:

628315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Ala505Val	CA366739704 NM_001322015.1:c.1514C>T