Allele Registry

Canonical Allele Identifier: PA916025936

Gene: PMS2 HGNC NCBI

ClinVar Allele:

212593

ClinVar RCV:

RCV000195742

RCV000775362

RCV001546990

ClinVar Variation:

216453

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Asp548Asn	CA044914 NM_001322014.1:c.1642G>A