Allele Registry

Canonical Allele Identifier: PA2827120331

Gene: PMS2 HGNC NCBI

ClinVar Allele:

133215

ClinVar RCV:

RCV000115655

RCV000228417

RCV000565134

RCV003415890

RCV003467051

ClinVar Variation:

127758

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308937.1:p.Arg321Cys	CA009466 NM_001322008.2:c.961C>T