Allele Registry

Canonical Allele Identifier: PA2827135697

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000483849

RCV000538453

RCV000566189

RCV000765958

RCV003470533

RCV004002269

ClinVar Variation:

418758

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Gln317Lys	CA052604 NM_001322014.1:c.949C>A