Allele Registry

Canonical Allele Identifier: PA2827106508

Gene: PMS2 HGNC NCBI

ClinVar Allele:

240119

ClinVar RCV:

RCV000227437

RCV000479471

RCV000570329

RCV002288911

RCV003998786

ClinVar Variation:

237886

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308933.1:p.Thr350Met	CA043685 NM_001322004.2:c.1049C>T