Canonical Allele Identifier: PA2827138522
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484325
ClinVar RCV Id: RCV000568742 RCV001297565
ClinVar Variation Id: 2107982
ClinVar RCV Id: RCV003033925
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308944.1:p.Val492Leu
CA366739873
NM_001322015.1:c.1474G>T
CA366739877
NM_001322015.1:c.1474G>C