Allele Registry

Canonical Allele Identifier: PA2827120488

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000772772

RCV001241244

ClinVar Variation:

628315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Ala502Val	CA366739704 NM_001322008.2:c.1505C>T