Allele Registry

Canonical Allele Identifier: PA2827118418

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000167069

RCV000226423

RCV000454673

RCV001753568

RCV003995554

ClinVar Variation:

187347

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308936.1:p.Ser349Phe	CA009556 NM_001322007.2:c.1046C>T