Allele Registry

Canonical Allele Identifier: PA2827129776

Gene: PMS2 HGNC NCBI

ClinVar Allele:

150561

ClinVar RCV:

RCV000129052

RCV000214144

RCV000234750

RCV003389702

RCV003453059

ClinVar Variation:

140847

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Asp388His	CA010800 NM_001322011.2:c.1162G>C