Canonical Allele Identifier: PA2827116805
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480357
ClinVar RCV Id: RCV000565385 RCV003329309 RCV001050929
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Gly743Arg
CA366735748
NM_001322006.2:c.2227G>C
CA366735750
NM_001322006.2:c.2227G>A