Allele Registry

Canonical Allele Identifier: PA2827131712

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001264444

ClinVar Variation:

984459

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308941.1:p.Asp393Glu	CA366737972 NM_001322012.1:c.1179C>G CA366737973 NM_001322012.1:c.1179C>A