Canonical Allele Identifier: PA2827125134
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 411080
ClinVar Variation Id: 1786330

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308938.1:p.Phe574Leu
CA16612211
NM_001322009.2:c.1722C>G
CA366737934
NM_001322009.2:c.1722C>A
CA366737939
NM_001322009.2:c.1720T>C