Allele Registry

Canonical Allele Identifier: PA2827124052

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV002230436

RCV003449155

RCV004022861

ClinVar Variation:

411057

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308938.1:p.Lys330Gln	CA16612262 NM_001322009.2:c.988A>C