Allele Registry

Canonical Allele Identifier: PA2827123355

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000581535

RCV004002364

ClinVar Variation:

492258

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Pro418Leu	CA366741565 NM_001322008.2:c.1253C>T