Allele Registry

Canonical Allele Identifier: PA2827123711

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000480711

RCV000584439

RCV000780618

RCV001301313

RCV004003361

ClinVar Variation:

421757

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Ser481Ile	CA16618499 NM_001322008.2:c.1442G>T