Allele Registry

Canonical Allele Identifier: PA916025889

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000131593

RCV000696828

RCV001563355

RCV002403311

RCV003998111

ClinVar Variation:

142461

1774987

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308943.1:p.Ser517Arg	CA009836 NM_001322014.1:c.1551C>A CA366741606 NM_001322014.1:c.1551C>G CA366741611 NM_001322014.1:c.1549A>C