Allele Registry

Canonical Allele Identifier: PA2827100780

Gene: PMS2 HGNC NCBI

ClinVar Allele:

233502

ClinVar RCV:

RCV000220236

RCV000629788

RCV002229221

RCV003997849

ClinVar Variation:

230549

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308932.1:p.Pro439Ala	CA045370 NM_001322003.2:c.1315C>G