Allele Registry

Canonical Allele Identifier: PA2827134136

Gene: PMS2 HGNC NCBI

ClinVar Allele:

133230

ClinVar RCV:

RCV000115673

RCV000456314

RCV000587414

RCV000662645

RCV000855604

RCV002505034

ClinVar Variation:

127773

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308942.1:p.Thr512Met	CA010829 NM_001322013.1:c.1535C>T