Canonical Allele Identifier: PA2827138792
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 455678
ClinVar RCV Id: RCV000540101
ClinVar Variation Id: 1784347
ClinVar RCV Id: RCV002417284

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Ser566Arg
CA366738200
NM_001322015.1:c.1698T>G
CA366738201
NM_001322015.1:c.1698T>A
CA366738852
NM_001322015.1:c.1696A>C