Allele Registry

Canonical Allele Identifier: PA2827137043

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV003358295

RCV003777458

ClinVar Variation:

2586342

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Gly116Arg	CA366743908 NM_001322015.1:c.346G>C CA366743909 NM_001322015.1:c.346G>A