Canonical Allele Identifier: PA2827134966
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 230497
ClinVar RCV Id: RCV000220166

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Ser118Arg
CA10578718
NM_001322014.1:c.354C>A
CA366744514
NM_001322014.1:c.354C>G
CA366744527
NM_001322014.1:c.352A>C