Allele Registry

Canonical Allele Identifier: PA891864055

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000227509

RCV001018478

RCV001550352

RCV003998797

ClinVar Variation:

237929

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Gln30Lys	CA052131 NM_000535.7:c.88C>A