Allele Registry

Canonical Allele Identifier: PA916025923

Gene: PMS2 HGNC NCBI

ClinVar Allele:

474589

ClinVar RCV:

RCV000569527

RCV000629904

RCV001755926

RCV004000894

ClinVar Variation:

480353

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Ala539Val	CA044643 NM_001322014.1:c.1616C>T