Allele Registry

Canonical Allele Identifier: PA2827119824

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000129748

RCV003453067

ClinVar Variation:

141291

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Leu716Pro	CA011547 NM_001322007.2:c.2147T>C