Allele Registry

Canonical Allele Identifier: PA916025503

Gene: PMS2 HGNC NCBI

ClinVar Allele:

240151

ClinVar RCV:

RCV000227509

RCV001018478

RCV001550352

RCV003998797

ClinVar Variation:

237929

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Gln30Lys	CA052131 NM_001322014.1:c.88C>A