Allele Registry

Canonical Allele Identifier: PA2827119276

Gene: PMS2 HGNC NCBI

ClinVar Allele:

133228

ClinVar RCV:

RCV000115671

RCV000212866

RCV000547118

ClinVar Variation:

127771

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Ile573Val	CA010735 NM_001322007.2:c.1717A>G