Allele Registry

Canonical Allele Identifier: PA2827107499

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000216140

RCV001322223

ClinVar Variation:

231764

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Lys442Gln	CA10578663 NM_001322004.2:c.1324A>C