Allele Registry

Canonical Allele Identifier: PA916025808

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002230436

RCV003449155

RCV004022861

ClinVar Variation:

411057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Lys465Gln	CA16612262 NM_001322014.1:c.1393A>C