Allele Registry

Canonical Allele Identifier: PA2827124528

Gene: PMS2 HGNC NCBI

ClinVar Allele:

212593

ClinVar RCV:

RCV000195742

RCV000775362

RCV001546990

ClinVar Variation:

216453

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Asp413Asn	CA044914 NM_001322009.2:c.1237G>A