Canonical Allele Identifier: PA2827115561
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1390803
ClinVar RCV Id: RCV001889633
ClinVar Variation Id: 2586327
ClinVar RCV Id: RCV003341770

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Glu421Asp
CA366742048
NM_001322006.2:c.1263G>T
CA366742050
NM_001322006.2:c.1263G>C