Canonical Allele Identifier: PA2827134826
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1771527
ClinVar RCV Id: RCV002396661

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Ser46Arg
CA366744989
NM_001322014.1:c.138T>G
CA366744990
NM_001322014.1:c.138T>A
CA366744993
NM_001322014.1:c.136A>C