Allele Registry

Canonical Allele Identifier: PA2827123327

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000115649

RCV000220170

RCV000586764

RCV000590932

RCV001085405

RCV003315638

ClinVar Variation:

127753

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Asp231His	CA009190 NM_001322009.2:c.691G>C