Allele Registry

Canonical Allele Identifier: PA2825191380

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV001009980

RCV001068947

ClinVar Variation:

818413

HGVS (amino-acid)	Matching Registered Transcripts
NP_000526.2:p.Asp379Ala	CA366742735 NM_000535.7:c.1136A>C