Allele Registry

Canonical Allele Identifier: PA2827117723

Gene: PMS2 HGNC NCBI

ClinVar Allele:

151237

ClinVar RCV:

RCV000130089

RCV000411073

RCV000486746

RCV001079273

RCV002265615

RCV003997548

ClinVar Variation:

141523

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Gln169Glu	CA012928 NM_001322007.2:c.505C>G