Canonical Allele Identifier: PA2827123332
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2501090
ClinVar RCV Id: RCV003226687

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Asp231Glu
CA366742811
NM_001322009.2:c.693T>G
CA366742812
NM_001322009.2:c.693T>A