Allele Registry

Canonical Allele Identifier: PA2827119026

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001013276

RCV001355480

RCV003594071

ClinVar Variation:

820125

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Val503Ala	CA366739699 NM_001322007.2:c.1508T>C