Allele Registry

Canonical Allele Identifier: PA2827122226

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV003358295

RCV003777458

ClinVar Variation:

2586342

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Gly84Arg	CA366743908 NM_001322009.2:c.250G>C CA366743909 NM_001322009.2:c.250G>A