Allele Registry

Canonical Allele Identifier: PA2827130185

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000131772

RCV000222535

RCV000689497

RCV001193254

RCV002450347

RCV003467186

ClinVar Variation:

142572

1790905

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308940.1:p.Lys493Asn	CA011460 NM_001322011.2:c.1479G>C CA366735645 NM_001322011.2:c.1479G>T