Canonical Allele Identifier: PA2827135322
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1513587
ClinVar RCV Id: RCV002026240

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308943.1:p.Gln212His
CA366743940
NM_001322014.1:c.636G>T
CA366743941
NM_001322014.1:c.636G>C