Canonical Allele Identifier: PA2827116051
Gene: PMS2 HGNC NCBI

Linked Data

ClinVar Variation Id: 484325
ClinVar Variation Id: 2107982
ClinVar RCV Id: RCV003033925

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001308935.1:p.Val543Leu
CA366739873
NM_001322006.2:c.1627G>T
CA366739877
NM_001322006.2:c.1627G>C