Allele Registry

Canonical Allele Identifier: PA2827117067

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000564836

RCV000630233

RCV001545463

RCV003465282

RCV004001202

ClinVar Variation:

486943

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Trp2Ser	CA366744819 NM_001322007.2:c.5G>C