Allele Registry

Canonical Allele Identifier: PA891864628

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001312363

RCV003165499

RCV003997645

ClinVar Variation:

220557

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Val475Met	CA349875 NM_000535.7:c.1423G>A