Allele Registry

Canonical Allele Identifier: PA2827123879

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV004518702

ClinVar Variation:

3231987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Lys504Asn	CA366739689 NM_001322008.2:c.1512A>T CA366739692 NM_001322008.2:c.1512A>C