Allele Registry

Canonical Allele Identifier: PA2827130248

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000129748

RCV003453067

ClinVar Variation:

141291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Leu511Pro	CA011547 NM_001322011.2:c.1532T>C