Allele Registry

Canonical Allele Identifier: PA2827133784

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000772772

RCV001241244

ClinVar Variation:

628315

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Ala417Val	CA366739704 NM_001322013.1:c.1250C>T